track db="hg19" name="ClinGen Recurrent CNV" description="ClinGen Recurrent CNV" itemRgb="On" #chrom start end name score strand thickStart thickEnd itemRgb chr1 144145783 144919024 BP1 0 . 144145783 144919024 0,0,0 chr1 144919024 145748064 1q21.1 recurrent (TAR syndrome) region (proximal, BP1-BP3) (includes RBM8A) 0 . 144919024 145748064 255,111,0 chr1 144919024 147394504 1q21.1 recurrent (TAR syndrome) region (proximal and distal, BP1-BP4) (includes RBM8A and GJA5) 0 . 144919024 147394504 255,111,0 chr1 145289115 145386506 BP2 0 . 145289115 145386506 0,0,0 chr1 145386507 145748064 1q21.1 recurrent (TAR syndrome) region (proximal, BP2-BP3) (includes RBM8A) 0 . 145386507 145748064 255,111,0 chr1 145748065 146577485 BP3 0 . 145748065 146577485 0,0,0 chr1 146577486 147394504 1q21.1 recurrent region (distal, BP3-BP4) (includes GJA5) 0 . 146577486 147394504 255,111,0 chr1 147394505 149847929 BP4 0 . 147394505 149847929 0,0,0 chr2 87061329 88295144 2p11.2 distal breakpoint 0 . 87061329 88295144 0,0,0 chr2 88295146 89057586 2p11.2 recurrent region (includes EIF2AK3, RPIA) 0 . 88295146 89057586 255,111,0 chr2 89057588 90545103 2p11.2 proximal breakpoint 0 . 89057588 90545103 0,0,0 chr2 96065168 96739011 2q11.2 proximal breakpoint 0 . 96065168 96739011 0,0,0 chr2 96739012 97671429 2q11.2 recurrent region (includes ARID5A, TMEM127) 0 . 96739012 97671429 255,111,0 chr2 97671430 98259607 2q11.2 distal breakpoint 0 . 97671430 98259607 0,0,0 chr2 110488973 110862107 2q13 proximal breakpoint 0 . 110488973 110862107 0,0,0 chr2 110862108 110983703 2q13 recurrent region (proximal) (includes NPHP1) 0 . 110862108 110983703 255,111,0 chr2 110983704 111392192 2q13 central breakpoint 0 . 110983704 111392192 0,0,0 chr2 111392193 113104742 2q13 recurrent region (distal) (includes BCL2L11) 0 . 111392193 113104742 255,111,0 chr2 113104743 113207451 2q13 distal breakpoint 0 . 113104743 113207451 0,0,0 chr2 131158798 131477508 Proximal LCR2q21.1 0 . 131158798 131477508 0,0,0 chr2 131477509 131929693 2q21.1 recurrent region (includes ARHGEF4, GPR148) 0 . 131477509 131929693 255,102,0 chr2 131929695 133121634 Distal LCR2q21.1q21.2 0 . 131929695 133121634 0,0,0 chr3 195657041 195756053 3q29 proximal breakpoint 0 . 195657041 195756053 0,0,0 chr3 195756054 197344662 3q29 recurrent region (includes DLG1) 0 . 195756054 197344662 255,111,0 chr3 197344663 197407424 3q29 distal breakpoint 0 . 197344663 197407424 0,0,0 chr5 175329459 175728978 SOS-PREP 0 . 175329459 175728978 0,0,0 chr5 175728979 177047793 5q35 recurrent (Sotos syndrome) region (includes NSD1) 0 . 175728979 177047793 255,111,0 chr5 177047794 177532883 SOS-DREP 0 . 177047794 177532883 0,0,0 chr7 72329872 72464302 LCR-C cen 0 . 72329872 72464302 0,0,0 chr7 72464303 72568067 LCR-A cen 0 . 72464303 72568067 0,0,0 chr7 72568068 72689055 LCR-B cen 0 . 72568068 72689055 0,0,0 chr7 72709064 72744454 LCR-C mid 0 . 72709064 72744454 0,0,0 chr7 72744455 74142511 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) 0 . 72744455 74142511 255,111,0 chr7 74142512 74267872 LCR-B mid 0 . 74142512 74267872 0,0,0 chr7 74287434 74439064 LCR-A mid 0 . 74287434 74439064 0,0,0 chr7 74508064 74653445 LCR-B tel 0 . 74508064 74653445 0,0,0 chr7 74765725 74997064 LCR-A tel 0 . 74765725 74997064 0,0,0 chr7 75024902 75115568 LCR-C tel 0 . 75024902 75115568 0,0,0 chr7 75115570 76063176 7q11.23 recurrent distal region (includes HIP1, YWHAG) 0 . 75115570 76063176 255,111,0 chr7 76063178 76808971 7q11.23 distal region distal breakpoint 0 . 76063178 76808971 0,0,0 chr8 6839960 8100063 REPD 0 . 6839960 8100063 0,0,0 chr8 8100064 11766329 8p23.1 recurrent region (includes GATA4) 0 . 8100064 11766329 255,111,0 chr8 11766330 12573612 REPP 0 . 11766330 12573612 0,0,0 chr10 46171743 46964579 LCR10q11.2A 0 . 46171743 46964579 0,0,0 chr10 46964581 51584612 10q11.2 recurrent region (LCR A-LCR E) 0 . 46964581 51584612 255,111,0 chr10 47149455 48300804 LCR10q11.2B 0 . 47149455 48300804 0,0,0 chr10 48300805 51584611 10q11.2 recurrent region (LCR B-LCR E) 0 . 48300805 51584611 255,111,0 chr10 48664304 49389702 LCR10q11.2C 0 . 48664304 49389702 0,0,0 chr10 49389703 51053583 10q11.2 recurrent region (LCR C-LCR D) 0 . 49389703 51053583 255,111,0 chr10 49389704 52415117 10q11.2 recurrent region (LCR C-LCR F) 0 . 49389704 52415117 255,111,0 chr10 51053584 51505365 LCR10q11.2D 0 . 51053584 51505365 0,0,0 chr10 51584613 52000996 LCR10q11.2E 0 . 51584613 52000996 0,0,0 chr10 52415118 52544109 LCR10q11.2F 0 . 52415118 52544109 0,0,0 chr10 81390559 81682842 LCR-3 0 . 81390559 81682842 0,0,0 chr10 81682843 88739388 10q22.3q23.2 recurrent region (includes BMPR1A) 0 . 81682843 88739388 255,111,0 chr10 88739389 89260363 LCR-4 0 . 88739389 89260363 0,0,0 chr11 67474035 67763645 Proximal 11q-REP 0 . 67474035 67763645 0,0,0 chr11 67763646 71236931 11q13.2q13.4 recurrent region (includes SHANK2, FGFs) 0 . 67763646 71236931 255,111,0 chr11 71236932 71624439 Distal 11q-REP 0 . 71236932 71624439 0,0,0 chr13 23485730 23544581 13q12.12 proximal breakpoint 0 . 23485730 23544581 0,0,0 chr13 23544582 24881361 13q12.12 recurrent region (includes SACS, SGCG) 0 . 23544582 24881361 255,111,0 chr13 24881362 25178626 13q12.12 distal breakpoint 0 . 24881362 25178626 0,0,0 chr15 21885008 22832518 BP1 0 . 21885008 22832518 0,0,0 chr15 22832519 23090897 15q11.2 recurrent region (BP1-BP2) (includes NIPA1) 0 . 22832519 23090897 255,111,0 chr15 22832519 28379874 15q11.2q13 recurrent (PWS/AS) region (Class I, BP1-BP3) 0 . 22832519 28379874 255,111,0 chr15 22832519 30368990 15q11.2q13 recurrent (PWS/AS) region (BP1-BP4) 0 . 22832520 30368990 255,111,0 chr15 23090898 23747995 BP2 0 . 23090898 23747995 0,0,0 chr15 23747996 28379874 15q11.2q13 recurrent (PWS/AS) region (Class II, BP2-BP3) 0 . 23747996 28379874 255,111,0 chr15 23747997 30368990 15q11.2q13 recurrent (PWS/AS) region (BP2-BP4) 0 . 23747997 30368990 255,111,0 chr15 28379875 29156958 BP3 0 . 28379875 29156958 0,0,0 chr15 29156959 30368990 15q13 recurrent region (BP3-BP4) (includes APBA2) 0 . 29156959 30368990 255,111,0 chr15 29156960 32445405 15q13.1q13.3 recurrent region (BP3-BP5) (includes CHRNA7) 0 . 29156960 32445405 255,111,0 chr15 30368991 31192888 BP4 0 . 30368991 31192888 0,0,0 chr15 31192889 32445405 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) 0 . 31192889 32445405 255,111,0 chr15 31909992 32019620 D-CHRNA7 LCR 0 . 31909992 32019620 0,0,0 chr15 32019621 32445405 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7, OTUD7A) 0 . 32019621 32445405 255,111,0 chr15 32445406 32925115 BP5 0 . 32445406 32925115 0,0,0 chr15 32925116 34671001 15q13.3q14 recurrent region (BP5-BP6) (includes GREM1) 0 . 32925116 34671001 255,102,0 chr15 34671002 34932917 BP6 0 . 34671002 34932917 0,0,0 chr15 72897872 72963714 BP-A(BP-4) 0 . 72897872 72963714 0,0,0 chr15 72963715 75508312 15q24 recurrent region (LCR A-LCR C) 0 . 72963715 75508312 255,111,0 chr15 72963715 75972909 15q24 recurrent region (LCR A-LCR D) (includes SIN3A) 0 . 72963715 75972909 255,111,0 chr15 72963716 74344086 15q24 recurrent region (LCR A-LCR B) 0 . 72963716 74344086 255,111,0 chr15 74344087 74412641 BP-B(BP-1) 0 . 74344087 74412641 0,0,0 chr15 74412643 75508312 15q24 recurrent region (LCR B-LCR C) 0 . 74412643 75508312 255,111,0 chr15 74412643 75972909 15q24 recurrent region (LCR B-LCR D) (includes SIN3A) 0 . 74412643 75972909 255,111,0 chr15 74412643 78151251 15q24 recurrent region (LCR B-LCR E) (includes SIN3A) 0 . 74412643 78151251 255,111,0 chr15 75508313 75631786 BP-C 0 . 75508313 75631786 0,0,0 chr15 75631787 75972909 15q24 recurrent region (LCR C-LCR D) (includes SIN3A) 0 . 75631787 75972909 255,111,0 chr15 75972910 76115250 BP-D(BP-2) 0 . 75972910 76115250 0,0,0 chr15 76115252 78151251 15q24 recurrent region (LCR D-LCR E) 0 . 76115252 78151251 255,111,0 chr15 78151252 78293175 BP-E(BP-3) 0 . 78151252 78293175 0,0,0 chr15 82483353 82818882 LCR 15q25.2A 0 . 82483353 82818882 0,0,0 chr15 82818884 84714733 15q25.2 recurrent region (proximal, LCR A/B-C) (includes RPS17) 0 . 82818884 84714733 255,111,0 chr15 82818885 85713001 15q25.2q25.3 recurrent region (proximal and distal, LCR A/B-D) (includes RPS17) 0 . 82818885 85713001 255,111,0 chr15 82881696 83199985 LCR 15q25.2B 0 . 82881696 83199985 0,0,0 chr15 83199987 84714733 15q25.2 recurrent region (proximal, LCR A/B-C) (includes RPS17) 0 . 83199987 84714733 255,111,0 chr15 83199988 85713001 15q25.2q25.3 recurrent region (proximal and distal, LCR A/B-D) (includes RPS17) 0 . 83199988 85713001 255,111,0 chr15 84714734 85139651 LCR 15q25.2C 0 . 84714734 85139651 0,0,0 chr15 85139652 85713001 15q25.2q25.3 recurrent region (distal, LCR C-D) 0 . 85139652 85713001 255,111,0 chr15 85713002 85832412 LCR 15q25.2D 0 . 85713002 85832412 0,0,0 chr16 14781004 15124767 BP1 0 . 14781004 15124767 0,0,0 chr16 15124769 16292265 16p13.11 recurrent region (BP1-BP3) (includes MYH11) 0 . 15124769 16292265 255,111,0 chr16 15124769 18167399 16p13.11 recurrent region (BP1-BP4) (includes MYH11) 0 . 15124769 18167399 255,111,0 chr16 15156252 15511710 BP2 0 . 15156252 15511710 0,0,0 chr16 15511711 16292265 16p13.11 recurrent region (BP2-BP3) (includes MYH11) 0 . 15511711 16292265 255,111,0 chr16 15511712 18167399 16p13.11 recurrent region (BP2-BP4) (includes MYH11) 0 . 15511712 18167399 255,111,0 chr16 16292266 16856795 BP3 0 . 16292266 16856795 0,0,0 chr16 16856797 18167399 16p12.3 recurrent region (BP3-BP4) (includes XYLT1) 0 . 16856797 18167399 255,102,0 chr16 18167400 18793801 BP4 0 . 18167400 18793801 0,0,0 chr16 21353861 21570112 16p12.2 distal breakpoint 0 . 21353861 21570112 0,0,0 chr16 21570113 21740423 16p12.2 recurrent region (distal, BP1-BP2) (includes OTOA) 0 . 21570113 21740423 255,111,0 chr16 21570114 29350607 16p12.2p11.2 recurrent region (includes PALB2) 0 . 21570114 29350607 255,111,0 chr16 21740424 21948444 16p12.2 central breakpoint 0 . 21740424 21948444 0,0,0 chr16 21948445 22430804 16p12.2 recurrent region (proximal, BP2-BP3) (includes EEF2K, CDR2) 0 . 21948445 22430804 255,111,0 chr16 22430805 22625259 16p12.2 proximal breakpoint 0 . 22430805 22625259 0,0,0 chr16 28338968 28483213 BP1 0 . 28338968 28483213 0,0,0 chr16 28483215 30199852 16p11.2 recurrent region (proximal and distal, BP1-BP5) (includes SH2B1 and TBX6) 0 . 28483215 30199852 255,111,0 chr16 28483215 29350607 16p11.2 recurrent region (distal, BP1-BP4) (includes SH2B1) 0 . 28483215 29350607 255,111,0 chr16 28483215 29046499 16p11.2 recurrent region (distal, BP1-BP3) (includes SH2B1) 0 . 28483215 29046499 255,111,0 chr16 28602133 28822634 BP2 0 . 28602133 28822634 0,0,0 chr16 28822635 29046499 16p11.2 recurrent region (distal, BP2-BP3) (includes SH2B1) 0 . 28822635 29046499 255,111,0 chr16 29046500 29112499 BP3 0 . 29046500 29112499 0,0,0 chr16 29350608 29649996 BP4 0 . 29350608 29649996 0,0,0 chr16 29649997 30199852 16p11.2 recurrent region (proximal, BP4-BP5) (includes TBX6) 0 . 29649997 30199852 255,111,0 chr16 30199853 30354779 BP5 0 . 30199853 30354779 0,0,0 chr17 13923279 14097914 Distal CMT1A-Rep 0 . 13923279 14097914 0,0,0 chr17 14097915 15422952 17p12 recurrent (HNPP/CMT1A) region (includes PMP22) 0 . 14097915 15422952 255,111,0 chr17 15422953 15796452 Proximal CMT1A-Rep/LCR17pA 0 . 15422953 15796452 0,0,0 chr17 16559586 16810027 LCR17P-E/SMS-REP Distal 0 . 16559586 16810027 0,0,0 chr17 16810028 20213202 17p11.2 recurrent (SMS/PLS) region (includes RAI1) 0 . 16810028 20213202 255,111,0 chr17 16810029 18278941 17p11.2 recurrent region (REPD-REPM) (includes RAI1) 0 . 16810029 18278941 255,111,0 chr17 16898810 16934738 LCR17pF 0 . 16898810 16934738 0,0,0 chr17 18278942 18751409 SMS-REP Middle/LCR17pB 0 . 18278942 18751409 0,0,0 chr17 18923968 19140822 RNU3 LCRs 0 . 18923968 19140822 0,0,0 chr17 20213203 20810293 SMS-REP Proximal/LCR17pC,D,G 0 . 20213203 20810293 0,0,0 chr17 28877665 29036624 NF1 REP A 0 . 28877665 29036624 0,0,0 chr17 29036625 29097068 SUZ12P1 0 . 29036625 29097068 0,0,0 chr17 29036625 30328268 17q11.2 recurrent region (Type 1, REPA-REPC) (includes NF1) 0 . 29036625 30328268 255,111,0 chr17 29097069 30264027 17q11.2 recurrent region (Type 2, SUZ12P1-SUZ12) (includes NF1) 0 . 29097069 30264027 255,111,0 chr17 29335354 29378228 NF1 Rep B 0 . 29335354 29378228 0,0,0 chr17 29378229 30328268 17q11.2 recurrent region- (Type 3, REPB-REPC) (includes NF1) 0 . 29378229 30328268 255,111,0 chr17 30264028 30328064 SUZ12 0 . 30264028 30328064 0,0,0 chr17 30328269 30447065 NF1 REP C 0 . 30328269 30447065 0,0,0 chr17 34405991 34815071 17q12 proximal breakpoint 0 . 34405991 34815071 0,0,0 chr17 34815072 36192489 17q12 recurrent (RCAD syndrome) region (includes HNF1B) 0 . 34815072 36192489 255,111,0 chr17 36192490 36470869 17q12 distal breakpoint 0 . 36192490 36470869 0,0,0 chr17 43492292 43705165 17q21.31 proximal breakpoint 0 . 43492292 43705165 0,0,0 chr17 43705166 44164880 17q21.31 recurrent (KdVS) region (includes KANSL1) 0 . 43705166 44164880 255,111,0 chr17 44164881 44784489 17q21.31 distal breakpoint 0 . 44164881 44784489 0,0,0 chr17 58000000 58113001 17q23.1q23.2 proximal breakpoint 0 . 58000000 58113001 0,0,0 chr17 58113002 60275809 17q23.1q23.2 recurrent region (includes TBX2, TBX4) 0 . 58113002 60275809 255,111,0 chr17 60275810 60375823 17q23.1q23.2 distal breakpoint 0 . 60275810 60375823 0,0,0 chr22 17392953 18642490 22q11.21 recurrent (CES) region (includes CECR2) 0 . 17392953 18642490 255,111,0 chr22 18642491 18912230 BP-A (BP-2) 0 . 18642491 18912230 0,0,0 chr22 18912231 20287208 22q11.2 recurrent (DGS) region (proximal, A-B) (includes TBX1) 0 . 18912231 20287208 255,111,0 chr22 18912231 21011947 22q11.2 recurrent (DGS) region (proximal, A-C) (includes TBX1) 0 . 18912231 21011947 255,102,0 chr22 18912231 21465672 22q11.2 recurrent (DGS) region (proximal, A-D) (includes TBX1) 0 . 18912231 21465672 255,111,0 chr22 20287209 20731985 BP-B (BP-3a) 0 . 20287209 20731985 0,0,0 chr22 20731986 21465672 22q11.2 recurrent region (central, B-D) (includes CRKL) 0 . 20731986 21465672 255,111,0 chr22 21011948 21092337 BP-C (BP-3c) 0 . 21011948 21092337 0,0,0 chr22 21092338 21465672 22q11.2 recurrent region (central, C-D) (includes CRKL) 0 . 21092338 21465672 255,111,0 chr22 21092339 22963077 22q11.2 recurrent region (C-E) (includes CRKL) 0 . 21092339 22963077 255,111,0 chr22 21465673 21917116 BP-D (BP-4) 0 . 21465673 21917116 0,0,0 chr22 21917117 22963077 22q11.2 recurrent region (distal type I, D-E) 0 . 21917117 22963077 255,111,0 chr22 21917117 23649111 22q11.2 recurrent region (distal type I, D-F) 0 . 21917117 23649111 255,111,0 chr22 21917117 24994433 22q11.2 recurrent region (distal type III, D-H) (includes SMARCB1) 0 . 21917117 24994433 255,111,0 chr22 21917118 24632821 22q11.2 recurrent region (distal type III, D-G) (includes SMARCB1) 0 . 21917118 24632821 255,111,0 chr22 22963078 23119413 BP-E (BP-5) 0 . 22963078 23119413 0,0,0 chr22 23119414 23649111 22q11.2 recurrent region (distal type II, E-F) 0 . 23119414 23649111 255,111,0 chr22 23119415 24994433 22q11.2 recurrent region (distal type III, E-H) (includes SMARCB1) 0 . 23119415 24994433 255,111,0 chr22 23649112 23831201 BP-F (BP-6) 0 . 23649112 23831201 0,0,0 chr22 23831202 24632821 22q11.2 recurrent region (distal type III, F-G) (includes SMARCB1) 0 . 23831202 24632821 255,111,0 chr22 23831203 24994433 22q11.2 recurrent region (distal type III, F-H) (includes SMARCB1) 0 . 23831203 24994433 255,111,0 chr22 24632822 24697086 BP-G (BP-7) 0 . 24632822 24697086 0,0,0 chr22 24994434 25089103 BP-H (BP-8) 0 . 24994434 25089103 0,0,0 chrX 6445605 6455811 Xp22.31 distal breakpoint 0 . 6445605 6455811 0,0,0 chrX 6455812 8124954 Xp22.31 recurrent region (includes STS) 0 . 6455812 8124954 255,111,0 chrX 8124955 8149387 Xp22.31 proximal breakpoint 0 . 8124955 8149387 0,0,0 chrX 47962466 48306151 D-REP 0 . 47962466 48306151 0,0,0 chrX 48306152 52103258 Xp11.22p11.23 recurrent region (includes SHROOM4) 0 . 48306152 52103258 255,111,0 chrX 49156988 49369395 M-REP 0 . 49156988 49369395 0,0,0 chrX 52103259 53006000 P-REP 0 . 52103259 53006000 0,0,0 chrX 153564285 153624563 LCR K1/2 0 . 153564285 153624563 0,0,0 chrX 153624564 153783898 Xq28 recurrent region (includes GDI1) 0 . 153624564 153783898 255,111,0 chrX 153783899 153882800 LCR L1/2 0 . 153783899 153882800 0,0,0 chrX 154109089 154118602 Int22h-1 0 . 154109089 154118602 0,0,0 chrX 154118603 154564401 Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) 0 . 154118603 154564401 255,111,0 chrX 154564402 154616376 Int22h-2/Palindrome 0 . 154564402 154616376 0,0,0 chrX 154683643 154734211 Int22h-3/Palindrome 0 . 154683643 154734211 0,0,0