track name="ClinGen_recurrent_CNV_V2.0-hg38" itemRGB="On" #chrom start end name score strand thickStart thickEnd itemRgb chr1 143184587 145686998 BP1 0 . 143184587 145686998 0,0,0 chr1 145686999 146048495 1q21.1 recurrent (TAR syndrome) region (proximal, BP2-BP3) (includes RBM8A) 0 . 145686999 146048495 255,111,0 chr1 145687000 147917509 1q21.1 recurrent (TAR syndrome) region (proximal and distal, BP1-BP4) (includes RBM8A and GJA5) 0 . 145687000 147917509 255,111,0 chr1 146048496 146149061 BP2 0 . 146048496 146149061 0,0,0 chr1 146149062 147105903 BP3 0 . 146149062 147105903 0,0,0 chr1 147105904 147917509 1q21.1 recurrent region (distal, BP3-BP4) (includes GJA5) 0 . 147105904 147917509 255,111,0 chr1 147917510 149876379 BP4 0 . 147917510 149876379 0,0,0 chr2 86834206 88022823 2p11.2 distal breakpoint 0 . 86834206 88022823 0,0,0 chr2 88022824 88755713 2p11.2 recurrent region (includes EIF2AK3, RPIA) 0 . 88022824 88755713 255,111,0 chr2 88755715 90402511 2p11.2 proximal breakpoint 0 . 88755715 90402511 0,0,0 chr2 95399415 96073263 2q11.2 proximal breakpoint 0 . 95399415 96073263 0,0,0 chr2 96073264 97005692 2q11.2 recurrent region (includes ARID5A, TMEM127) 0 . 96073264 97005692 255,111,0 chr2 97005693 97643144 2q11.2 distal breakpoint 0 . 97005693 97643144 0,0,0 chr2 109731396 110104530 2q13 proximal breakpoint 0 . 109731396 110104530 0,0,0 chr2 110104531 110228181 2q13 recurrent region (proximal) (includes NPHP1) 0 . 110104531 110228181 255,111,0 chr2 110228182 110634615 2q13 central breakpoint 0 . 110228182 110634615 0,0,0 chr2 110634616 112347165 2q13 recurrent region (distal) (includes BCL2L11) 0 . 110634616 112347165 255,111,0 chr2 112347166 112449874 2q13 distal breakpoint 0 . 112347166 112449874 0,0,0 chr2 130401225 130719935 Proximal LCR2q21.1 0 . 130401225 130719935 0,0,0 chr2 130719936 131172120 2q21.1 recurrent region (includes ARHGEF4, GPR148) 0 . 130719936 131172120 255,111,0 chr2 131172121 132364061 Distal LCR2q21.1q21.2 0 . 131172121 132364061 0,0,0 chr3 195930170 196029182 3q29 proximal breakpoint 0 . 195930170 196029182 0,0,0 chr3 196029183 197617791 3q29 recurrent region (includes DLG1) 0 . 196029183 197617791 255,111,0 chr3 197617792 197680553 3q29 distal breakpoint 0 . 197617792 197680553 0,0,0 chr5 175902456 176301975 SOS-PREP 0 . 175902456 176301975 0,0,0 chr5 176301976 177620792 5q35 recurrent (Sotos syndrome) region (includes NSD1) 0 . 176301976 177620792 255,111,0 chr5 177620793 178105882 SOS-DREP 0 . 177620793 178105882 0,0,0 chr7 72859312 72993773 LCR-C cen 0 . 72859312 72993773 0,0,0 chr7 72993774 73153979 LCR-A cen 0 . 72993774 73153979 0,0,0 chr7 73153980 73275011 LCR-B cen 0 . 73153980 73275011 0,0,0 chr7 73295064 73330451 LCR-C mid 0 . 73295064 73330451 0,0,0 chr7 73330452 74728173 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) 0 . 73330452 74728173 255,111,0 chr7 74728174 74795725 LCR-B mid 0 . 74728174 74795725 0,0,0 chr7 74871339 75024960 LCR-A mid 0 . 74871339 75024960 0,0,0 chr7 75092273 75185343 LCR-B tel 0 . 75092273 75185343 0,0,0 chr7 75237187 75367809 LCR-A tel 0 . 75237187 75367809 0,0,0 chr7 75395790 75528717 LCR-C tel 0 . 75395790 75528717 0,0,0 chr7 75528718 76433859 7q11.23 recurrent distal region (includes HIP1, YWHAG) 0 . 75528718 76433859 255,111,0 chr7 76433860 77179654 7q11.23 distal region distal breakpoint 0 . 76433860 77179654 0,0,0 chr8 6976263 8242541 REPD 0 . 6976263 8242541 0,0,0 chr8 8242542 11908820 8p23.1 recurrent region (includes GATA4) 0 . 8242542 11908820 255,111,0 chr8 11908821 12719872 REPP 0 . 11908821 12719872 0,0,0 chr10 45671834 48181659 LCR10q11.2A/B/C 0 . 45671834 48181659 0,0,0 chr10 48181660 49845537 10q11.2 recurrent region (LCR C-LCR D) 0 . 48181660 49845537 255,111,0 chr10 48181661 50655359 10q11.2 recurrent region (LCR C-LCR F) 0 . 48181661 50655359 255,111,0 chr10 49845538 50200897 LCR10q11.2D/E 0 . 49845538 50200897 0,0,0 chr10 50655358 50784349 LCR10q11.2F 0 . 50655358 50784349 0,0,0 chr10 79630803 79923086 LCR-3 0 . 79630803 79923086 0,0,0 chr10 79923087 86979631 10q22.3q23.2 recurrent region (includes BMPR1A) 0 . 79923087 86979631 255,111,0 chr10 86979632 87500606 LCR-4 0 . 86979632 87500606 0,0,0 chr11 67706564 67996174 Proximal 11q-REP 0 . 67706564 67996174 0,0,0 chr11 67996175 71525885 11q13.2q13.4 recurrent region (includes SHANK2, FGFs) 0 . 67996175 71525885 255,111,0 chr11 71525886 71913396 Distal 11q-REP 0 . 71525886 71913396 0,0,0 chr13 22911590 22970442 13q12.12 proximal breakpoint 0 . 22911590 22970442 0,0,0 chr13 22970443 24307222 13q12.12 recurrent region (includes SACS, SGCG) 0 . 22970443 24307222 255,111,0 chr13 24307223 24604488 13q12.12 distal breakpoint 0 . 24307223 24604488 0,0,0 chr15 21828502 22782169 BP1 0 . 21828502 22782169 0,0,0 chr15 22782170 23040134 15q11.2 recurrent region (BP1-BP2) (includes NIPA1) 0 . 22782170 23040134 255,111,0 chr15 22782170 28134728 15q11.2q13 recurrent (PWS/AS) region (Class I, BP1-BP3) 0 . 22782170 28134728 255,111,0 chr15 22782171 30076787 15q11.2q13 recurrent (PWS/AS) region (BP1-BP4) 0 . 22782171 30076787 255,111,0 chr15 23040135 23465364 BP2 0 . 23040135 23465364 0,0,0 chr15 23465365 28134728 15q11.2q13 recurrent (PWS/AS) region (Class II, BP2-BP3) 0 . 23465365 28134728 255,111,0 chr15 23465366 30076787 15q11.2q13 recurrent (PWS/AS) region (BP2-BP4) 0 . 23465366 30076787 255,111,0 chr15 28134729 28916885 BP3 0 . 28134729 28916885 0,0,0 chr15 28916886 30076787 15q13 recurrent region (BP3-BP4) (includes APBA2) 0 . 28916886 30076787 255,111,0 chr15 28916887 32153204 15q13.1q13.3 recurrent region (BP3-BP5) (includes CHRNA7) 0 . 28916887 32153204 255,111,0 chr15 30076788 30900685 BP4 0 . 30076788 30900685 0,0,0 chr15 30900686 32153204 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) 0 . 30900686 32153204 255,111,0 chr15 31617789 31727417 D-CHRNA7 LCR 0 . 31617789 31727417 0,0,0 chr15 31727418 32153204 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7, OTUD7A) 0 . 31727418 32153204 255,111,0 chr15 32153205 32607507 BP5 0 . 32153205 32607507 0,0,0 chr15 32607509 34378800 15q13.3q14 recurrent region (BP5-BP6) (includes GREM1) 0 . 32607509 34378800 255,111,0 chr15 34378801 34640716 BP6 0 . 34378801 34640716 0,0,0 chr15 72605531 72671373 BP-A(BP-4) 0 . 72605531 72671373 0,0,0 chr15 72671374 75215971 15q24 recurrent region (LCR A-LCR C) 0 . 72671374 75215971 255,111,0 chr15 72671374 75680568 15q24 recurrent region (LCR A-LCR D) (includes SIN3A) 0 . 72671374 75680568 255,111,0 chr15 72671375 74051743 15q24 recurrent region (LCR A-LCR B) 0 . 72671375 74051743 255,111,0 chr15 74051745 74120301 BP-B(BP-1) 0 . 74051745 74120301 0,0,0 chr15 74120302 75215971 15q24 recurrent region (LCR B-LCR C) 0 . 74120302 75215971 255,111,0 chr15 74120302 75680568 15q24 recurrent region (LCR B-LCR D) (includes SIN3A) 0 . 74120302 75680568 255,111,0 chr15 74120302 77858909 15q24 recurrent region (LCR B-LCR E) (includes SIN3A) 0 . 74120302 77858909 255,111,0 chr15 75215972 75339445 BP-C 0 . 75215972 75339445 0,0,0 chr15 75339446 75680568 15q24 recurrent region (LCR C-LCR D) (includes SIN3A) 0 . 75339446 75680568 255,111,0 chr15 75680569 75822909 BP-D(BP-2) 0 . 75680569 75822909 0,0,0 chr15 75822911 77858909 15q24 recurrent region (LCR D-LCR E) 0 . 75822911 77858909 255,111,0 chr15 77858910 78000833 BP-E(BP-3) 0 . 77858910 78000833 0,0,0 chr15 82190662 82534139 LCR 15q25.2A/B 0 . 82190662 82534139 0,0,0 chr15 82531237 85169770 15q25.2q25.3 recurrent region (proximal and distal, LCR A/B-D) (includes RPS17) 0 . 82531237 85169770 255,111,0 chr15 82534140 84045981 15q25.2 recurrent region (proximal, LCR A/B-C) (includes RPS17) 0 . 82534140 84045981 255,111,0 chr15 84045982 84596420 LCR 15q25.2C 0 . 84045982 84596420 0,0,0 chr15 84596421 85169770 15q25.2q25.3 recurrent region (distal, LCR C-D) 0 . 84596421 85169770 255,111,0 chr15 85169771 85286411 LCR 15q25.2D 0 . 85169771 85286411 0,0,0 chr16 14687147 15030910 BP1 0 . 14687147 15030910 0,0,0 chr16 15030912 16198408 16p13.11 recurrent region (BP1-BP3) (includes MYH11) 0 . 15030912 16198408 255,111,0 chr16 15030912 18073542 16p13.11 recurrent region (BP1-BP4) (includes MYH11) 0 . 15030912 18073542 255,111,0 chr16 15062395 15417853 BP2 0 . 15062395 15417853 0,0,0 chr16 15417854 16198408 16p13.11 recurrent region (BP2-BP3) (includes MYH11) 0 . 15417854 16198408 255,111,0 chr16 15417855 18073542 16p13.11 recurrent region (BP2-BP4) (includes MYH11) 0 . 15417855 18073542 255,111,0 chr16 16198409 16762938 BP3 0 . 16198409 16762938 0,0,0 chr16 16762939 18073542 16p12.3 recurrent region (BP3-BP4) (includes XYLT1) 0 . 16762939 18073542 255,111,0 chr16 18073543 18782479 BP4 0 . 18073543 18782479 0,0,0 chr16 21342540 21558791 BP1 0 . 21342540 21558791 0,0,0 chr16 21558792 21729102 16p12.2 recurrent region (distal, BP1-BP2) (includes OTOA) 0 . 21558792 21729102 255,111,0 chr16 21558793 29339286 16p12.2p11.2 recurrent region (includes PALB2) 0 . 21558793 29339286 255,111,0 chr16 21729103 21937123 BP2 0 . 21729103 21937123 0,0,0 chr16 21937124 22419483 16p12.2 recurrent region (proximal, BP2-BP3) (includes EEF2K, CDR2) 0 . 21937124 22419483 255,111,0 chr16 22419484 22613938 BP3 0 . 22419484 22613938 0,0,0 chr16 28327647 28471892 BP1 0 . 28327647 28471892 0,0,0 chr16 28471894 30188531 16p11.2 recurrent region (proximal and distal, BP1-BP5) (includes SH2B1 and TBX6) 0 . 28471894 30188531 255,111,0 chr16 28471894 29339286 16p11.2 recurrent region (proximal, BP1-BP4) (includes SH2B1) 0 . 28471894 29339286 255,111,0 chr16 28590812 28811313 BP2 0 . 28590812 28811313 0,0,0 chr16 28471894 29035178 16p11.2 recurrent region (distal, BP1-BP3) (includes SH2B1) 0 . 28471894 29035178 255,111,0 chr16 28811314 29035178 16p11.2 recurrent region (distal, BP2-BP3) (includes SH2B1) 0 . 28811314 29035178 255,111,0 chr16 29035179 29101178 BP3 0 . 29035179 29101178 0,0,0 chr16 29339287 29638675 BP4 0 . 29339287 29638675 0,0,0 chr16 29638676 30188531 16p11.2 recurrent region (proximal, BP4-BP5) (includes TBX6) 0 . 29638676 30188531 255,111,0 chr16 30188532 30343458 BP5 0 . 30188532 30343458 0,0,0 chr17 14019962 14194597 Distal CMT1A-Rep 0 . 14019962 14194597 0,0,0 chr17 14194598 15519638 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) 0 . 14194598 15519638 255,111,0 chr17 15519639 15880697 Proximal CMT1A-Rep/LCR17pA 0 . 15519639 15880697 0,0,0 chr17 16656272 16906713 LCR17P-E/SMS-REP Distal 0 . 16656272 16906713 0,0,0 chr17 16906714 20309889 17p11.2 recurrent (SMS/PLS) region (includes RAI1) 0 . 16906714 20309889 255,111,0 chr17 16906715 18375627 17p11.2 recurrent region (REPD-REPM) (includes RAI1) 0 . 16906715 18375627 255,111,0 chr17 16995496 17031424 LCR17pF 0 . 16995496 17031424 0,0,0 chr17 18375628 18848096 SMS-REP Middle/LCR17pB 0 . 18375628 18848096 0,0,0 chr17 19020655 19237509 RNU3 LCRs 0 . 19020655 19237509 0,0,0 chr17 20309890 20906980 SMS-REP Proximal/LCR17pC,D,G 0 . 20309890 20906980 0,0,0 chr17 30550647 30709606 NF1 REP A 0 . 30550647 30709606 0,0,0 chr17 30709607 30780078 SUZ12P1 0 . 30709607 30780078 0,0,0 chr17 30709607 32001248 17q11.2 recurrent region (Type 1, REPA-REPC) (includes NF1) 0 . 30709607 32001248 255,111,0 chr17 30780079 31937008 17q11.2 recurrent region (Type 2, SUZ12P1-SUZ12) (includes NF1) 0 . 30780079 31937008 255,111,0 chr17 31008336 31051210 NF1 Rep B 0 . 31008336 31051210 0,0,0 chr17 31051211 32001248 17q11.2 recurrent region- (Type 3, REPB-REPC) (includes NF1) 0 . 31051211 32001248 255,111,0 chr17 31937009 32001045 SUZ12 0 . 31937009 32001045 0,0,0 chr17 32001249 32120046 NF1 REP C 0 . 32001249 32120046 0,0,0 chr17 36078633 36458166 17q12 proximal breakpoint 0 . 36078633 36458166 0,0,0 chr17 36458167 37854616 17q12 recurrent (RCAD syndrome) region (includes HNF1B) 0 . 36458167 37854616 255,111,0 chr17 37854617 38314968 17q12 distal breakpoint 0 . 37854617 38314968 0,0,0 chr17 45414926 45627799 17q21.31 proximal breakpoint 0 . 45414926 45627799 0,0,0 chr17 45627800 46087514 17q21.31 recurrent (KdVS region (includes KANSL1) 0 . 45627800 46087514 255,111,0 chr17 46087515 46707123 17q21.31 distal breakpoint 0 . 46087515 46707123 0,0,0 chr17 59921943 60035640 17q23.1q23.2 proximal breakpoint 0 . 59921943 60035640 0,0,0 chr17 60035641 62198448 17q23.1q23.2 recurrent region (includes TBX2, TBX4) 0 . 60035641 62198448 255,111,0 chr17 62198449 62298462 17q23.1q23.2 distal breakpoint 0 . 62198449 62298462 0,0,0 chr22 16912063 18159723 22q11.21 recurrent (CES) region (includes CECR2) 0 . 16912063 18159723 255,111,0 chr22 18159724 18924717 BP-A (BP-2) 0 . 18159724 18924717 0,0,0 chr22 18924718 20299685 22q11.2 recurrent (DGS) region (proximal, A-B) (includes TBX1) 0 . 18924718 20299685 255,111,0 chr22 18924718 20667579 22q11.2 recurrent (DGS) region (proximal, A-C) (includes TBX1) 0 . 18924718 20667579 255,111,0 chr22 18924718 21111383 22q11.2 recurrent (DGS) region (proximal, A-D) (includes TBX1) 0 . 18924718 21111383 255,111,0 chr22 20299686 20377695 BP-B (BP-3a) 0 . 20299686 20377695 0,0,0 chr22 20377696 21111383 22q11.2 recurrent region (central, B-D) (includes CRKL) 0 . 20377696 21111383 255,111,0 chr22 20667580 20738049 BP-C (BP-3c) 0 . 20667580 20738049 0,0,0 chr22 20738050 21111383 22q11.2 recurrent region (central, C-D) (includes CRKL) 0 . 20738050 21111383 255,111,0 chr22 20738051 22620607 22q11.2 recurrent region (C-E) (includes CRKL) 0 . 20738051 22620607 255,111,0 chr22 21111384 21562827 BP-D (BP-4) 0 . 21111384 21562827 0,0,0 chr22 21562828 22620607 22q11.2 recurrent region (distal type I, D-E) 0 . 21562828 22620607 255,111,0 chr22 21562828 23306924 22q11.2 recurrent region (distal type I, D-F) 0 . 21562828 23306924 255,111,0 chr22 21562828 24598466 22q11.2 recurrent region (distal type III, D-H) (includes SMARCB1) 0 . 21562828 24598466 255,111,0 chr22 21562829 24236853 22q11.2 recurrent region (distal type III D-G) (includes SMARCB1) 0 . 21562829 24236853 255,111,0 chr22 22620608 22776923 BP-E (BP-5) 0 . 22620608 22776923 0,0,0 chr22 22776924 23306924 22q11.2 recurrent region (distal type II, E-F) 0 . 22776924 23306924 255,111,0 chr22 22776925 24598466 22q11.2 recurrent region (distal type III E-H) (includes SMARCB1) 0 . 22776925 24598466 255,111,0 chr22 23306925 23489014 BP-F (BP-6) 0 . 23306925 23489014 0,0,0 chr22 23489015 24236853 22q11.2 recurrent region (distal type III, F-G) (includes SMARCB1) 0 . 23489015 24236853 255,111,0 chr22 23489016 24598466 22q11.2 recurrent region (distal type III F-H) (includes SMARCB1) 0 . 23489016 24598466 255,111,0 chr22 24236854 24301118 BP-G (BP-7) 0 . 24236854 24301118 0,0,0 chr22 24598467 24693136 BP-H (BP-8) 0 . 24598467 24693136 0,0,0 chrx 6527561 6537770 Xp22.31 distal breakpoint 0 . 6527561 6537770 0,0,0 chrx 6537771 8156913 Xp22.31 recurrent region (includes STS) 0 . 6537771 8156913 255,111,0 chrx 8156914 8181346 Xp22.31 proximal breakpoint 0 . 8156914 8181346 0,0,0 chrx 48103983 48447779 D-REP 0 . 48103983 48447779 0,0,0 chrx 48447780 52444264 Xp11.22p11.23 recurrent region (includes SHROOM4) 0 . 48447780 52444264 255,111,0 chrx 49300509 49606699 M-REP 0 . 49300509 49606699 0,0,0 chrx 52444265 52976820 P-REP 0 . 52444265 52976820 0,0,0 chrx 154335935 154396222 LCR K1/2 0 . 154335935 154396222 0,0,0 chrx 154396223 154555683 Xq28 recurrent region (includes GDI1) 0 . 154396223 154555683 255,111,0 chrx 154555684 154654526 LCR L1/2 0 . 154555684 154654526 0,0,0 chrx 154880814 154890327 Int22h-1 0 . 154880814 154890327 0,0,0 chrx 154890328 155335092 Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) 0 . 154890328 155335092 255,111,0 chrx 155335093 155386727 Int22h-2/Palindrome 0 . 155335093 155386727 0,0,0 chrx 155453982 155504550 Int22h-3/Palindrome 0 . 155453982 155504550 0,0,0