bio:sequence(aed:String) bio:start(aed:Integer) bio:end(aed:Integer) aed:name(aed:String) aed:value(aed:String) style:color(aed:Color) aed:modifiedBy(aed:String) aed:modified(aed:DateTime) affx:materialModifiedBy(aed:String) bio:cdsMax(aed:Integer) bio:cdsMin(aed:Integer) bed:score(aed:Integer) aed:counter(aed:Integer) affx:materialModified(aed:DateTime) aed:reference(aed:URI) aed:note(aed:String) namespace:track(aed:URI) http://affymetrix.com/ontology/genome.ucsc.edu/track/ namespace:affx(aed:URI) http://affymetrix.com/ontology/ namespace:bed(aed:URI) http://affymetrix.com/ontology/genome.ucsc.edu/bed/ affx:ucscGenomeVersion(aed:String) hg38 aed:application(aed:String) Chromosome Analysis Suite aed:created(aed:DateTime) 2025-07-25T17:08:53.588-05:00 aed:modified(aed:DateTime) 2025-12-30T17:04:57.873-06:00 track:description(aed:String) ClinGen Recurrent CNV track:itemRgb(aed:Boolean) true track:name(aed:String) ClinGen Recurrent CNV chr1 143184587 145686998 BP1 rgb(0,0,0) 145686998 143184587 0 chr1 145686999 146048495 1q21.1 recurrent (TAR syndrome) region (proximal, BP2-BP3) (includes RBM8A) rgb(255,111,0) jherriges:John 2025-07-30T23:49:49.701-05:00 jherriges:John 146048495 145686999 0 0 2025-07-30T23:49:49.702-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37428 chr1 145687000 147917509 1q21.1 recurrent (TAR syndrome) region (proximal and distal, BP1-BP4) (includes RBM8A and GJA5) rgb(255,111,0) jherriges:John 2025-11-14T11:14:36.794-06:00 jherriges:John 147917509 145687000 0 0 2025-11-14T11:14:36.794-06:00 "https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-37428 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37421" chr1 146048496 146149061 BP2 rgb(0,0,0) 146149061 146048496 0 chr1 146149062 147105903 BP3 rgb(0,0,0) 147105903 146149062 0 chr1 147105904 147917509 1q21.1 recurrent region (distal, BP3-BP4) (includes GJA5) rgb(255,111,0) jherriges:John 2025-07-30T23:48:19.299-05:00 jherriges:John 147917509 147105904 0 0 2025-07-30T23:48:19.299-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37421 chr1 147917510 149876379 BP4 rgb(0,0,0) 149876379 147917510 0 chr2 86834206 88022823 2p11.2 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:15:36.992-06:00 jherriges:John 88022823 86834206 0 0 2025-11-14T11:15:36.993-06:00 chr2 88022824 88755713 2p11.2 recurrent region (includes EIF2AK3, RPIA) rgb(255,111,0) jherriges:John 2025-07-25T17:36:28.070-05:00 jherriges:John 88755713 88022824 0 0 2025-07-25T17:36:28.070-05:00 https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46754 chr2 88755715 90402511 2p11.2 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:16:22.523-06:00 jherriges:John 90402511 88755715 0 1 2025-11-14T11:16:22.524-06:00 chr2 95399415 96073263 2q11.2 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:16:34.930-06:00 jherriges:John 96073263 95399415 0 0 2025-11-14T11:16:34.931-06:00 chr2 96073264 97005692 2q11.2 recurrent region (includes ARID5A, TMEM127) rgb(255,111,0) jherriges:John 2025-07-30T23:50:40.139-05:00 jherriges:John 97005692 96073264 0 0 2025-07-30T23:50:40.139-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37495 chr2 97005693 97643144 2q11.2 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:16:42.334-06:00 jherriges:John 97643144 97005693 0 0 2025-11-14T11:16:42.334-06:00 chr2 109731396 110104530 2q13 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:17:06.840-06:00 jherriges:John 110104530 109731396 0 0 2025-11-14T11:17:06.841-06:00 chr2 110104531 110228181 2q13 recurrent region (proximal) (includes NPHP1) rgb(255,111,0) jherriges:John 2025-07-30T23:51:45.258-05:00 jherriges:John 110228181 110104531 0 0 2025-07-30T23:51:45.258-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37405 chr2 110228182 110634615 2q13 central breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:17:18.409-06:00 jherriges:John 110634615 110228182 0 0 2025-11-14T11:17:18.409-06:00 chr2 110634616 112347165 2q13 recurrent region (distal) (includes BCL2L11) rgb(255,111,0) jherriges:John 2025-07-30T23:52:19.639-05:00 jherriges:John 112347165 110634616 0 0 2025-07-30T23:52:19.639-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37496 chr2 112347166 112449874 2q13 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:17:26.881-06:00 jherriges:John 112449874 112347166 0 0 2025-11-14T11:17:26.881-06:00 chr2 130401225 130719935 Proximal LCR2q21.1 rgb(0,0,0) jherriges:John 2025-11-14T11:18:19.239-06:00 jherriges:John 130719935 130401225 0 0 2025-11-14T11:18:19.239-06:00 chr2 130719936 131172120 2q21.1 recurrent region (includes ARHGEF4, GPR148) rgb(255,111,0) jherriges:John 2025-07-30T23:55:20.684-05:00 jherriges:John 131172120 130719936 0 0 2025-07-30T23:55:20.684-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46288 chr2 131172121 132364061 Distal LCR2q21.1q21.2 rgb(0,0,0) jherriges:John 2025-11-14T11:18:26.708-06:00 jherriges:John 132364061 131172121 0 0 2025-11-14T11:18:26.708-06:00 chr3 195930170 196029182 3q29 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:19:04.818-06:00 jherriges:John 196029182 195930170 0 0 2025-11-14T11:19:04.818-06:00 chr3 196029183 197617791 3q29 recurrent region (includes DLG1) rgb(255,111,0) jherriges:John 2025-07-30T23:56:02.848-05:00 jherriges:John 197617791 196029183 0 0 2025-07-30T23:56:02.849-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37443 chr3 197617792 197680553 3q29 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:19:14.231-06:00 jherriges:John 197680553 197617792 0 0 2025-11-14T11:19:14.231-06:00 chr5 175902456 176301975 SOS-PREP rgb(0,0,0) 176301975 175902456 0 chr5 176301976 177620792 5q35 recurrent (Sotos syndrome) region (includes NSD1) rgb(255,111,0) jherriges:John 2025-07-30T23:56:49.638-05:00 jherriges:John 177620792 176301976 0 0 2025-07-30T23:56:49.638-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37425 chr5 177620793 178105882 SOS-DREP rgb(0,0,0) 178105882 177620793 0 chr7 72859312 72993773 LCR-C cen rgb(0,0,0) jherriges:John 2025-11-14T11:20:19.406-06:00 jherriges:John 72993773 72859312 0 0 2025-11-14T11:20:19.406-06:00 chr7 72993774 73153979 LCR-A cen rgb(0,0,0) jherriges:John 2025-11-14T11:20:25.756-06:00 jherriges:John 73153979 72993774 0 0 2025-11-14T11:20:25.756-06:00 chr7 73153980 73275011 LCR-B cen rgb(0,0,0) jherriges:John 2025-11-14T11:20:32.045-06:00 jherriges:John 73275011 73153980 0 0 2025-11-14T11:20:32.045-06:00 chr7 73295064 73359055 LCR-C mid rgb(0,0,0) jherriges:John 2025-11-14T11:20:37.951-06:00 jherriges:John 73359055 73295064 0 0 2025-11-14T11:20:37.951-06:00 chr7 73330452 74728172 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) rgb(255,111,0) jherriges:John 2025-07-30T23:57:42.420-05:00 jherriges:John 74728172 73330452 0 0 2025-07-30T23:57:42.420-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37392 chr7 74657738 74795725 LCR-B mid rgb(0,0,0) jherriges:John 2025-11-14T11:20:49.041-06:00 jherriges:John 74795725 74657738 0 0 2025-11-14T11:20:49.041-06:00 chr7 74871339 75024960 LCR-A mid rgb(0,0,0) jherriges:John 2025-11-14T11:20:54.373-06:00 jherriges:John 75024960 74871339 0 0 2025-11-14T11:20:54.373-06:00 chr7 75092273 75185343 LCR-B tel rgb(0,0,0) jherriges:John 2025-11-14T11:20:59.352-06:00 jherriges:John 75185343 75092273 0 0 2025-11-14T11:20:59.352-06:00 chr7 75237187 75367809 LCR-A tel rgb(0,0,0) jherriges:John 2025-11-14T11:21:04.538-06:00 jherriges:John 75367809 75237187 0 0 2025-11-14T11:21:04.538-06:00 chr7 75395790 75528717 LCR-C tel rgb(0,0,0) jherriges:John 2025-11-14T11:21:10.327-06:00 jherriges:John 75528717 75395790 0 0 2025-11-14T11:21:10.327-06:00 chr7 75528718 76433859 7q11.23 recurrent distal region (includes HIP1, YWHAG) rgb(255,111,0) jherriges:John 2025-07-31T00:00:07.175-05:00 jherriges:John 76433859 75528718 0 0 2025-07-31T00:00:07.175-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46291 chr7 76433860 77179654 7q11.23 distal region distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:21:21.391-06:00 jherriges:John 77179654 76433860 0 0 2025-11-14T11:21:21.391-06:00 chr8 6976263 8242541 REPD rgb(0,0,0) 8242541 6976263 0 chr8 8242542 11908820 8p23.1 recurrent region (includes GATA4) rgb(255,111,0) jherriges:John 2025-07-31T00:00:36.995-05:00 jherriges:John 11908820 8242542 0 0 2025-07-31T00:00:36.995-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37423 chr8 11908821 12719872 REPP rgb(0,0,0) jherriges:john 2018-11-08T16:46:03.277-06:00 jherriges:john 12719872 11908821 0 2018-11-08T16:46:03.277-06:00 chr10 45671834 48181659 LCR10q11.2A/B/C rgb(0,0,0) 48181659 45671834 0 chr10 48181660 49845537 10q11.2 recurrent region (LCR C-LCR D) rgb(255,111,0) jherriges:John 2025-07-31T00:04:08.610-05:00 jherriges:John 49845537 48181660 0 0 2025-07-31T00:04:08.610-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37497 chr10 48181661 50655359 10q11.2 recurrent region (LCR C-LCR F) rgb(255,111,0) jherriges:John 2025-11-14T11:23:53.618-06:00 jherriges:John 50655359 48181661 0 0 2025-11-14T11:23:53.618-06:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37497 chr10 49845538 50200897 LCR10q11.2D/E rgb(0,0,0) 50200897 49845538 0 chr10 50655358 50784349 LCR10q11.2F rgb(0,0,0) 50784349 50655358 0 chr10 79630803 79923086 LCR-3 rgb(0,0,0) 79923086 79630803 0 chr10 79923087 86979631 10q22.3q23.2 recurrent region (includes BMPR1A) rgb(255,111,0) jherriges:John 2025-07-31T00:03:49.054-05:00 jherriges:John 86979631 79923087 0 0 2025-07-31T00:03:49.054-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37424 chr10 86979632 87500606 LCR-4 rgb(0,0,0) 87500606 86979632 0 chr11 67706564 67996174 Proximal 11q-REP rgb(0,0,0) jherriges:John 2025-11-14T11:24:43.211-06:00 jherriges:John 67996174 67706564 0 0 2025-11-14T11:24:43.211-06:00 chr11 67996175 71525885 11q13.2q13.4 recurrent region (includes SHANK2, FGFs) rgb(255,111,0) jherriges:John 2025-07-31T00:04:47.612-05:00 jherriges:John 71525885 67996175 0 0 2025-07-31T00:04:47.612-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37498 chr11 71525886 71913396 Distal 11q-REP rgb(0,0,0) jherriges:John 2025-11-14T11:24:47.714-06:00 jherriges:John 71913396 71525886 0 0 2025-11-14T11:24:47.714-06:00 chr13 22911590 22970442 13q12.12 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:25:20.297-06:00 jherriges:John 22970442 22911590 0 0 2025-11-14T11:25:20.297-06:00 chr13 22970443 24307222 13q12.12 recurrent region (includes SACS, SGCG) rgb(255,111,0) jherriges:John 2025-07-31T00:05:23.729-05:00 jherriges:John 24307222 22970443 0 0 2025-07-31T00:05:23.729-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46298 chr13 24307223 24604488 13q12.12 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:25:28.347-06:00 jherriges:John 24604488 24307223 0 0 2025-11-14T11:25:28.347-06:00 chr15 21828502 22782169 BP1 rgb(0,0,0) 22782169 21828502 0 chr15 22782170 23040134 15q11.2 recurrent region (BP1-BP2) (includes NIPA1) rgb(255,111,0) jherriges:John 2025-07-31T00:07:01.139-05:00 jherriges:John 23040134 22782170 0 0 2025-07-31T00:07:01.139-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37448 chr15 22782170 28134728 15q11.2q13 recurrent (PWS/AS) region (Class I, BP1-BP3) rgb(255,111,0) jherriges:John 2025-11-14T11:28:34.245-06:00 jherriges:John 28134728 22782170 0 0 2025-11-14T11:28:34.245-06:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37478 chr15 22782171 30076787 15q11.2q13 recurrent (PWS/AS) region (BP1-BP4) rgb(255,111,0) jherriges:John 2025-10-31T15:58:55.205-05:00 jherriges:John 30076787 22782171 0 2025-10-31T15:58:55.205-05:00 chr15 23040135 23465364 BP2 rgb(0,0,0) 23465364 23040135 0 chr15 23465365 28134728 15q11.2q13 recurrent (PWS/AS) region (Class II,BP2-BP3) rgb(255,111,0) jherriges:John 2025-11-14T11:28:20.572-06:00 jherriges:John 28134728 23465365 0 0 2025-11-14T11:28:20.572-06:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37478 chr15 23465366 30076787 15q11.2q13 recurrent (PWS/AS) region (BP2-BP4) rgb(255,111,0) jherriges:John 2025-10-31T15:58:55.205-05:00 jherriges:John 30076787 23465366 0 2025-10-31T15:58:55.205-05:00 chr15 28134729 28916885 BP3 rgb(0,0,0) 28916885 28134729 0 chr15 28916886 30076787 15q13 recurrent region (BP3-BP4) (includes APBA2) rgb(255,111,0) jherriges:John 2025-07-31T00:08:13.614-05:00 jherriges:John 30076787 28916886 0 0 2025-07-31T00:08:13.615-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46285 chr15 28916887 32153204 15q13.1q13.3 recurrent region (BP3-BP5) (includes CHRNA7) rgb(255,111,0) jherriges:John 2025-10-31T15:58:55.205-05:00 jherriges:John 32153204 28916887 0 2025-10-31T15:58:55.205-05:00 chr15 30076788 30900685 BP4 rgb(0,0,0) 30900685 30076788 0 chr15 30900686 32153204 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) rgb(255,111,0) jherriges:John 2025-07-31T00:08:43.021-05:00 jherriges:John 32153204 30900686 0 0 2025-07-31T00:08:43.021-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37411 chr15 31617789 31727417 D_CHRNA7_LCR rgb(0,0,0) 31727417 31617789 0 chr15 31727418 32153204 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7, OTUD7A) rgb(255,111,0) jherriges:John 2025-07-31T00:09:27.674-05:00 jherriges:John 32153204 31727418 0 0 2025-07-31T00:09:27.674-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46295 chr15 32153205 32607507 BP5 rgb(0,0,0) 32607507 32153205 0 chr15 32607509 34378800 15q13.3q14 recurrent region (BP5-BP6) (includes GREM1) rgb(255,111,0) jherriges:John 2025-07-30T23:39:58.831-05:00 jherriges:John 34378800 32607509 0 0 2025-07-30T23:39:58.831-05:00 https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46753 chr15 34378801 34640716 BP6 rgb(0,0,0) 34640716 34378801 0 chr15 72605531 72671373 BP-A(BP-4) rgb(0,0,0) 72671373 72605531 0 chr15 72671374 75215971 15q24 recurrent region (LCR A-LCR C) rgb(255,111,0) jherriges:John 2025-07-31T00:12:42.040-05:00 jherriges:John 75215971 72671374 0 0 2025-07-31T00:12:42.040-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46296 chr15 72671374 75680568 15q24 recurrent region (LCR A-LCR D) (includes SIN3A) rgb(255,111,0) jherriges:John 2025-12-30T17:04:32.408-06:00 jherriges:John 75680568 72671374 0 0 2025-07-31T00:12:19.602-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46300 chr15 72671375 74051743 15q24 recurrent region (LCR A-LCR B) rgb(255,111,0) jherriges:John 2025-10-31T15:59:18.275-05:00 jherriges:John 74051743 72671375 0 2025-10-31T15:59:18.275-05:00 chr15 74051745 74120301 BP-B(BP-1) rgb(0,0,0) 74120301 74051745 0 chr15 74120302 75215971 15q24 recurrent region (LCR B-LCR C) rgb(255,111,0) jherriges:John 2025-11-14T11:33:53.748-06:00 jherriges:John 75215971 74120302 0 0 2025-11-14T11:33:53.749-06:00 chr15 74120302 75680568 15q24 recurrent region (LCR B-LCR D) (includes SIN3A) rgb(255,111,0) jherriges:John 2025-11-14T11:32:39.700-06:00 jherriges:John 75680568 74120302 0 0 2025-10-31T15:59:18.275-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46300 chr15 74120302 77858909 15q24 recurrent region (LCR B-LCR E) (includes SIN3A) rgb(255,111,0) jherriges:John 2025-12-30T17:04:57.655-06:00 jherriges:John 77858909 74120302 0 0 2025-10-31T15:59:18.275-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46300 chr15 75215972 75339445 BPC rgb(0,0,0) 75339445 75215972 0 chr15 75339446 75680568 15q24 recurrent region (LCR C-LCR D) (includes SIN3A) rgb(255,111,0) jherriges:John 2025-07-31T00:11:37.623-05:00 jherriges:John 75680568 75339446 0 0 2025-07-31T00:11:37.623-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46300 chr15 75680569 75822909 BP-D(BP-2) rgb(0,0,0) jherriges:John 2025-11-14T11:31:46.278-06:00 jherriges:John 75822909 75680569 0 0 2025-11-14T11:31:46.278-06:00 chr15 75822911 77858909 15q24 recurrent region (LCR D-LCR E) rgb(255,111,0) jherriges:John 2025-10-31T15:59:18.275-05:00 jherriges:John 77858909 75822911 0 2025-10-31T15:59:18.275-05:00 chr15 77858910 78000833 BP-E(BP-3) rgb(0,0,0) jherriges:John 2025-11-14T11:32:11.603-06:00 jherriges:John 78000833 77858910 0 0 2025-11-14T11:32:11.603-06:00 chr15 82190662 82534139 LCR 15q25.2A/B rgb(0,0,0) jherriges:John 2025-11-14T11:35:03.645-06:00 jherriges:John 82534139 82190662 0 0 2025-11-14T11:35:03.645-06:00 chr15 82531237 85169770 15q25.2q25.3 recurrent region (proximal and distal, LCR A/B-D) (includes RPS17) rgb(255,111,0) jherriges:John 2025-11-14T11:39:04.826-06:00 jherriges:John 85169770 82531237 0 0 2025-11-14T11:38:20.490-06:00 "https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46300 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37514" chr15 82534140 84045981 15q25.2 recurrent region (proximal, LCR A/B-C) (includes RPS17) rgb(255,111,0) jherriges:John 2025-07-31T00:11:07.969-05:00 jherriges:John 84045981 82534140 0 0 2025-07-31T00:11:07.969-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37500 chr15 84045982 84596420 LCR 15q25.2C rgb(0,0,0) jherriges:John 2025-11-14T11:35:08.316-06:00 jherriges:John 84596420 84045982 0 0 2025-11-14T11:35:08.316-06:00 chr15 84596421 85169770 15q25.2q25.3 recurrent region (distal, LCR C-D) rgb(255,111,0) jherriges:John 2025-07-31T00:10:31.774-05:00 jherriges:John 85169770 84596421 0 0 2025-07-31T00:10:31.774-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37514 chr15 85169771 85286411 LCR 15q25.2D rgb(0,0,0) jherriges:John 2025-11-14T11:35:18.618-06:00 jherriges:John 85286411 85169771 0 0 2025-11-14T11:35:18.620-06:00 chr16 14687147 15030910 BP1 rgb(0,0,0) 15030910 14687147 0 chr16 15030912 16198408 16p13.11 recurrent region (BP1-BP3) (includes MYH11) rgb(255,111,0) jherriges:John 2025-10-31T15:52:42.326-05:00 jherriges:John 16198408 15030912 0 2025-10-31T15:52:42.326-05:00 http://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_region.cgi?id=ISCA-37415 chr16 15030912 18073542 16p13.11 recurrent region (BP1-BP4) (includes MYH11) rgb(255,111,0) jherriges:John 2025-10-31T15:52:42.326-05:00 jherriges:John 18073542 15030912 0 2025-10-31T15:52:42.326-05:00 http://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_region.cgi?id=ISCA-37415 chr16 15062395 15417853 BP2 rgb(0,0,0) 15417853 15062395 0 chr16 15417854 16198408 16p13.11 recurrent region (BP2-BP3) (includes MYH11) rgb(255,111,0) jherriges:John 2025-11-14T11:42:01.055-06:00 jherriges:John 16198408 15417854 0 0 2025-07-31T00:14:04.305-05:00 http://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_region.cgi?id=ISCA-37415 chr16 15417855 18073542 16p13.11 recurrent region (BP2-BP4) (includes MYH11) rgb(255,111,0) jherriges:John 2025-10-31T15:52:42.326-05:00 jherriges:John 18073542 15417855 0 2025-10-31T15:52:42.326-05:00 http://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_region.cgi?id=ISCA-37415 chr16 16198409 16762938 BP3 rgb(0,0,0) 16762938 16198409 0 chr16 16762939 18073542 16p12.3 recurrent region (BP3-BP4) (includes XYLT1) rgb(255,111,0) jherriges:John 2025-07-25T17:21:43.602-05:00 jherriges:John 18073542 16762939 0 0 2025-07-25T17:21:43.602-05:00 https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46755 chr16 18073543 18782479 BP4 rgb(0,0,0) 18782479 18073543 0 chr16 21342540 21558791 BP1 rgb(0,0,0) 21558791 21342540 0 chr16 21558792 21729102 16p12.2 recurrent region (distal, BP1-BP2) (includes OTOA) rgb(255,111,0) jherriges:John 2025-07-31T00:14:33.900-05:00 jherriges:John 21729102 21558792 0 0 2025-07-31T00:14:33.900-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46297 chr16 21558793 29339286 16p12.2p11.2 recurrent region (includes PALB2) rgb(255,111,0) jherriges:John 2025-10-31T15:52:58.330-05:00 jherriges:John 29339286 21558793 0 2025-10-31T15:52:58.330-05:00 chr16 21729103 21937123 BP2 rgb(0,0,0) 21937123 21729103 0 chr16 21937124 22419483 16p12.2 recurrent region (proximal, BP2-BP3) (includes EEF2K, CDR2) rgb(255,111,0) jherriges:John 2025-07-31T00:15:54.891-05:00 jherriges:John 22419483 21937124 0 0 2025-07-31T00:15:54.891-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37409 chr16 22419484 22613938 BP3 rgb(0,0,0) 22613938 22419484 0 chr16 28327647 28471892 BP1 rgb(0,0,0) 28471892 28327647 0 chr16 28471894 30188531 16p11.2 recurrent region (proximal and distal BP1-BP5) (includes SH2B1 and TBX6) rgb(255,111,0) jherriges:John 2025-10-31T15:52:58.330-05:00 jherriges:John 30188531 28471894 0 2025-10-31T15:52:58.330-05:00 chr16 28590812 28811313 BP2 rgb(0,0,0) 28811313 28590812 0 chr16 28811314 29035178 16p11.2 recurrent region (distal, BP2-BP3) (includes SH2B1) rgb(255,111,0) jherriges:John 2025-07-31T00:16:42.774-05:00 jherriges:John 29035178 28811314 0 0 2025-07-31T00:16:42.774-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37486 chr16 29035179 29101178 BP3 rgb(0,0,0) 29101178 29035179 0 chr16 29339287 29638675 BP4 rgb(0,0,0) 29638675 29339287 0 chr16 29638676 30188531 16p11.2 recurrent region (proximal, BP4-BP5) (includes TBX6) rgb(255,111,0) jherriges:John 2025-07-31T00:17:18.172-05:00 jherriges:John 30188531 29638676 0 0 2025-07-31T00:17:18.172-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37400 chr16 30188532 30343458 BP5 rgb(0,0,0) 30343458 30188532 0 chr17 14019962 14194597 Distal CMT1A-Rep rgb(0,0,0) jherriges:John 2025-11-14T11:45:30.061-06:00 jherriges:John 14194597 14019962 0 0 2025-11-14T11:45:30.062-06:00 chr17 14194598 15519638 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) rgb(255,111,0) jherriges:John 2025-07-31T00:18:27.903-05:00 jherriges:John 15519638 14194598 0 0 2025-07-31T00:18:27.903-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37436 chr17 15519639 15880697 Proximal CMT1A-Rep/LCR17pA rgb(0,0,0) jherriges:John 2025-11-14T11:45:35.511-06:00 jherriges:John 15880697 15519639 0 0 2025-11-14T11:45:35.512-06:00 chr17 16656272 16906713 LCR17P-E/SMS-REP Distal rgb(0,0,0) jherriges:John 2025-11-14T11:45:42.115-06:00 jherriges:John 16906713 16656272 0 0 2025-11-14T11:45:42.115-06:00 chr17 16906714 20309889 17p11.2 recurrent (SMS/PLS) region (includes RAI1) rgb(255,111,0) jherriges:John 2025-07-31T00:18:48.079-05:00 jherriges:John 20309889 16906714 0 0 2025-07-31T00:18:48.079-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37418 chr17 16906715 18375627 17p11.2 recurrent region (REPD-REPM) (includes RAI1) rgb(255,111,0) jherriges:John 2025-10-31T15:53:24.110-05:00 jherriges:John 18375627 16906715 0 0 2025-10-31T15:53:24.110-05:00 http://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_region.cgi?id=ISCA-37418 chr17 16995496 17031424 LCR17pF rgb(0,0,0) 17031424 16995496 0 chr17 18375628 18848096 SMS-REP Middle/LCR17pB rgb(0,0,0) jherriges:John 2025-11-14T11:45:52.277-06:00 jherriges:John 18848096 18375628 0 0 2025-11-14T11:45:52.277-06:00 chr17 19020655 19237509 RNU3 LCRs rgb(0,0,0) jherriges:John 2025-11-14T11:46:10.093-06:00 jherriges:John 19237509 19020655 0 0 2025-11-14T11:46:10.093-06:00 chr17 20309890 20906980 SMS-REP Proximal/LCR17pC,D,G rgb(0,0,0) jherriges:John 2025-11-14T11:46:15.754-06:00 jherriges:John 20906980 20309890 0 0 2025-11-14T11:46:15.754-06:00 chr17 30550647 30709606 NF1 REP A rgb(0,0,0) jherriges:John 2025-11-14T11:47:28.272-06:00 jherriges:John 30709606 30550647 0 0 2025-11-14T11:47:28.272-06:00 chr17 30709607 30780078 SUZ12P1 rgb(0,0,0) 30780078 30709607 0 chr17 30709607 32001248 17q11.2 recurrent region (Type 1, REPA-REPC) (includes NF1) rgb(255,111,0) jherriges:John 2025-11-14T11:48:40.031-06:00 jherriges:John 32001248 30709607 0 0 2025-11-14T11:48:40.031-06:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37431 chr17 30780079 31937008 17q11.2 recurrent region (Type 2,SUZ12P1-SUZ12) (includes NF1) rgb(255,111,0) jherriges:John 2025-11-14T11:48:56.432-06:00 jherriges:John 31937008 30780079 0 0 2025-11-14T11:48:56.432-06:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37431 chr17 31008336 31051210 NF1 Rep B rgb(0,0,0) jherriges:John 2025-11-14T11:47:38.345-06:00 jherriges:John 31051210 31008336 0 0 2025-11-14T11:47:38.345-06:00 chr17 31051211 32001248 17q11.2 recurrent region- (Type 3,REPB-REPC) (includes NF1) rgb(255,111,0) jherriges:John 2025-11-14T11:48:26.346-06:00 jherriges:John 32001248 31051211 0 0 2025-11-14T11:48:26.346-06:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37431 chr17 31937009 32001045 SUZ12 rgb(0,0,0) 32001045 31937009 0 chr17 32001249 32120046 NF1 REP C rgb(0,0,0) jherriges:John 2025-11-14T11:47:46.959-06:00 jherriges:John 32120046 32001249 0 0 2025-11-14T11:47:46.959-06:00 chr17 36078633 36458166 17q12 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:49:09.721-06:00 jherriges:John 36458166 36078633 0 0 2025-11-14T11:49:09.721-06:00 chr17 36458167 37854616 17q12 recurrent (RCAD syndrome) region (includes HNF1B) rgb(255,111,0) jherriges:John 2025-07-31T00:20:45.670-05:00 jherriges:John 37854616 36458167 0 0 2025-07-31T00:20:45.670-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37432 chr17 37854617 38314968 17q12 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:49:19.690-06:00 jherriges:John 38314968 37854617 0 0 2025-11-14T11:49:19.690-06:00 chr17 45414926 45627799 17q21.31 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:50:04.616-06:00 jherriges:John 45627799 45414926 0 0 2025-11-14T11:50:04.616-06:00 chr17 45627800 46087514 17q21.31 recurrent (KdVS region (includes KANSL1) rgb(255,111,0) jherriges:John 2025-11-14T11:51:34.828-06:00 jherriges:John 46087514 45627800 0 0 2025-11-14T11:51:34.828-06:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37420 chr17 46087515 46707123 17q21.31 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:49:57.316-06:00 jherriges:John 46707123 46087515 0 0 2025-11-14T11:49:57.316-06:00 chr17 59921943 60035640 17q23.1q23.2 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:50:53.203-06:00 jherriges:John 60035640 59921943 0 0 2025-11-14T11:50:53.203-06:00 chr17 60035641 62198448 17q23.1q23.2 recurrent region (includes TBX2, TBX4) rgb(255,111,0) jherriges:John 2025-07-31T00:21:43.323-05:00 jherriges:John 62198448 60035641 0 0 2025-07-31T00:21:43.324-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37501 chr17 62198449 62298462 17q23.1q23.2 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:51:02.161-06:00 jherriges:John 62298462 62198449 0 0 2025-11-14T11:51:02.161-06:00 chr22 16912063 18109094 22q11.21 recurrent (CES) region (includes CECR2) rgb(255,111,0) jherriges:John 2025-08-01T00:09:46.610-05:00 jherriges:John 18109094 16912063 0 0 2025-08-01T00:09:46.610-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37393 chr22 18159723 18924717 BP-A (BP-2) rgb(0,0,0) jherriges:John 2025-11-14T11:54:54.280-06:00 jherriges:John 18924717 18159723 0 0 2025-11-14T11:54:54.280-06:00 chr22 18924718 20299685 22q11.2 recurrent (DGS) region (proximal, A-B) (includes TBX1) rgb(255,111,0) jherriges:John 2025-08-01T00:16:38.105-05:00 jherriges:John 20299685 18924718 0 0 2025-08-01T00:16:38.105-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37446 chr22 18924718 20667579 22q11.2 recurrent (DGS) region (proximal, A-C) (includes TBX1) rgb(255,111,0) jherriges:John 2025-08-01T00:16:23.734-05:00 jherriges:John 20667579 18924718 0 0 2025-08-01T00:16:23.734-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37446 chr22 18924718 21111383 22q11.2 recurrent (DGS) region (proximal, A-D) (includes TBX1) rgb(255,111,0) jherriges:John 2025-08-01T00:16:11.516-05:00 jherriges:John 21111383 18924718 0 0 2025-08-01T00:16:11.516-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37446 chr22 20299686 20377695 BP-B (BP-3a) rgb(0,0,0) jherriges:John 2025-11-14T11:55:53.625-06:00 jherriges:John 20377695 20299686 0 0 2025-11-14T11:55:53.625-06:00 chr22 20377696 21111383 22q11.2 recurrent region (central, B-D) (includes CRKL) rgb(255,111,0) jherriges:John 2025-08-01T00:16:52.997-05:00 jherriges:John 21111383 20377696 0 0 2025-08-01T00:16:52.997-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37516 chr22 20667580 20738049 BP-C (BP-3c) rgb(0,0,0) jherriges:John 2025-11-14T11:56:00.253-06:00 jherriges:John 20738049 20667580 0 0 2025-11-14T11:56:00.253-06:00 chr22 20738050 21111383 22q11.2 recurrent region (central, C-D) (includes CRKL) rgb(255,111,0) jherriges:John 2025-08-01T00:17:18.636-05:00 jherriges:John 21111383 20738050 0 0 2025-08-01T00:17:18.636-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37516 chr22 20738051 22620607 22q11.2 recurrent region (C-E) (includes CRKL) rgb(255,111,0) jherriges:John 2025-10-31T15:58:09.708-05:00 jherriges:John 22620607 20738051 0 2025-10-31T15:58:09.708-05:00 chr22 21111384 21562827 BP-D (BP-4) rgb(0,0,0) jherriges:John 2025-11-14T11:56:05.292-06:00 jherriges:John 21562827 21111384 0 0 2025-11-14T11:56:05.292-06:00 chr22 21562828 22620607 22q11.2 recurrent region (distal type I, D-E) rgb(255,111,0) jherriges:John 2025-08-01T00:17:31.273-05:00 jherriges:John 22620607 21562828 0 0 2025-08-01T00:17:31.273-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37397 chr22 21562828 23306924 22q11.2_recurrent_region_(distal_type_I,_D-F) rgb(255,111,0) jherriges:john 2018-11-08T15:51:26.765-06:00 23306924 21562828 0 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37397 chr22 21562828 24598466 22q11.2 recurrent region (distal type III, D-H) (includes SMARCB1) rgb(255,111,0) jherriges:John 2025-11-14T11:58:53.958-06:00 jherriges:John 24598466 21562828 0 0 2025-11-14T11:58:53.958-06:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46294 chr22 21562829 24236853 22q11.2 recurrent region (distal type III D-G) (includes SMARCB1) rgb(255,111,0) jherriges:John 2025-11-14T11:59:14.078-06:00 jherriges:John 24236853 21562829 0 0 2025-10-31T15:58:09.708-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46294 chr22 22620608 22776923 BP-E (BP-5) rgb(0,0,0) jherriges:John 2025-11-14T11:56:09.261-06:00 jherriges:John 22776923 22620608 0 0 2025-11-14T11:56:09.261-06:00 chr22 22776924 23306924 22q11.2 recurrent region (distal type II, E-F) rgb(255,111,0) jherriges:John 2025-08-01T00:18:08.936-05:00 jherriges:John 23306924 22776924 0 0 2025-08-01T00:18:08.936-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37488 chr22 22776925 24598466 22q11.2 recurrent region (distal type III E-H) (includes SMARCB1) rgb(255,111,0) jherriges:John 2025-11-14T11:59:07.171-06:00 jherriges:John 24598466 22776925 0 0 2025-10-31T15:58:09.707-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46294 chr22 23306925 23489014 BP-F (BP-6) rgb(0,0,0) jherriges:John 2025-11-14T11:56:15.771-06:00 jherriges:John 23489014 23306925 0 0 2025-11-14T11:56:15.771-06:00 chr22 23489015 24236853 22q11.2 recurrent region (distal type III, F-G) (includes SMARCB1) rgb(255,111,0) jherriges:John 2025-08-01T00:18:44.246-05:00 jherriges:John 24236853 23489015 0 0 2025-08-01T00:18:44.246-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46294 chr22 23489016 24598466 22q11.2 recurrent region (distal type III F-H) (includes SMARCB1) rgb(255,111,0) jherriges:John 2025-11-14T11:58:26.758-06:00 jherriges:John 24598466 23489016 0 0 2025-10-31T15:58:09.708-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46294 chr22 24236854 24301118 BP-G (BP-7) rgb(0,0,0) jherriges:John 2025-11-14T11:56:20.822-06:00 jherriges:John 24301118 24236854 0 0 2025-11-14T11:56:20.822-06:00 chr22 24598467 24693136 BP-H (BP-8) rgb(0,0,0) jherriges:John 2025-11-14T11:56:25.492-06:00 jherriges:John 24693136 24598467 0 0 2025-11-14T11:56:25.492-06:00 chrX 6527561 6537770 Xp22.31 distal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:53:38.385-06:00 jherriges:John 6537770 6527561 0 0 2025-11-14T11:53:38.385-06:00 chrX 6537771 8156913 Xp22.31 recurrent region (includes STS) rgb(255,111,0) jherriges:John 2025-07-31T00:22:28.308-05:00 jherriges:John 8156913 6537771 0 0 2025-07-31T00:22:28.308-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37417 chrX 8156914 8181346 Xp22.31 proximal breakpoint rgb(0,0,0) jherriges:John 2025-11-14T11:53:26.466-06:00 jherriges:John 8181346 8156914 0 0 2025-11-14T11:53:26.466-06:00 chrX 48103983 48447779 D-REP rgb(0,0,0) 48447779 48103983 0 chrX 48447780 52444264 Xp11.22p11.23 recurrent region (includes SHROOM4) rgb(255,111,0) jherriges:John 2025-07-31T00:22:50.225-05:00 jherriges:John 52444264 48447780 0 0 2025-07-31T00:22:50.225-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46290 chrX 49300509 49606699 M-REP rgb(0,0,0) 49606699 49300509 0 chrX 52444265 52976820 P-REP rgb(0,0,0) 52976820 52444265 0 chrX 154335935 154396222 LCR K1/2 rgb(0,0,0) jherriges:John 2025-11-14T11:52:35.073-06:00 jherriges:John 154396222 154335935 0 0 2025-11-14T11:52:35.073-06:00 chrX 154396223 154555683 Xq28 recurrent region (includes GDI1) rgb(255,111,0) jherriges:John 2025-07-31T00:23:20.257-05:00 jherriges:John 154555683 154396223 0 0 2025-07-31T00:23:20.257-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37439 chrX 154555684 154654526 LCR L1/2 rgb(0,0,0) jherriges:John 2025-11-14T11:52:30.037-06:00 jherriges:John 154654526 154555684 0 0 2025-11-14T11:52:30.037-06:00 chrX 154880814 154890327 Int22h-1 rgb(0,0,0) 154890327 154880814 0 chrX 154890328 155335092 Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) rgb(255,111,0) jherriges:John 2025-07-31T00:23:50.182-05:00 jherriges:John 155335092 154890328 0 0 2025-07-31T00:23:50.182-05:00 https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37494 chrX 155335093 155386727 Int22h-2/Palindrome rgb(0,0,0) 155386727 155335093 0 chrX 155453982 155504550 Int22h-3/Palindrome rgb(0,0,0) 155504550 155453982 0