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Items: 1 to 20 of 556

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137045copy number variation1nstd102humanPathogenic GRCh37 chr1: 536,777-6,012,896 , GRCh38.p12 chr1: 601,397-5,952,836 MIR200B, LOC105378608, 172 more genes
    nsv7099018copy number variation1nstd102humanPathogenic GRCh37 chr1: 1-2,580,976 , GRCh38.p12 chr1: 10,001-2,649,537 DVL1, LOC100129534, 148 more genes
    nsv7044270inversion1nstd229human GRCh38 chr1: 1,133,718-2,842,494 , GRCh37.p13 chr1: 1,069,098-2,759,059 LOC105378586, MIR6726, 91 more genes
    nsv6637093copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,467-12,448,956 , GRCh38.p12 chr1: 914,087-12,388,897 VWA1, CEP104, 311 more genes
    nsv6636801copy number variation1nstd102humanPathogenic GRCh37 chr1: 1,335,011-2,302,755 , GRCh38.p12 chr1: 1,399,631-2,371,316 SSU72, MRPL20, 44 more genes
    nsv6636661copy number variation1nstd102humanUncertain significance GRCh37 chr1: 1,130,311-2,397,177 , GRCh38.p12 chr1: 1,194,931-2,465,738 ATAD3C, ACAP3, 69 more genes
    nsv6636292copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,467-2,972,435 , GRCh38.p12 chr1: 914,087-3,055,871 LOC105378602, LOC105378599, 108 more genes
    nsv6625818copy number variation1nstd224human GRCh37 chr1: 1,372,750-1,469,412 , GRCh38.p12 chr1: 1,437,370-1,534,032 ATAD3A, ATAD3B, 3 more genes
    nsv6625764copy number variation1nstd224human GRCh37 chr1: 1,421,538-1,471,017 , GRCh38.p12 chr1: 1,486,158-1,535,637 ATAD3B, TMEM240, 1 more genes
    nsv6625737copy number variation1nstd224human GRCh37 chr1: 1,262,366-2,066,702 , GRCh38.p12 chr1: 1,326,986-2,135,263 GNB1, SLC35E2A, 44 more genes
    nsv6625382copy number variation1nstd224human GRCh37 chr1: 1,387,747-1,485,984 , GRCh38.p12 chr1: 1,452,367-1,550,604 SSU72, ATAD3A, 3 more genes
    nsv6547337inversion1nstd223human GRCh38 chr1: 1,425,219-1,726,104 , GRCh37.p13 chr1: 1,360,599-1,657,543 SSU72, VWA1, 17 more genes
    nsv6315409copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-10,258,804 , GRCh38.p12 chr1: 914,086-10,198,746 VAMP3, CTNNBIP1, 245 more genes
    nsv6315371copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-2,518,608 , GRCh38.p12 chr1: 914,086-2,587,169 LINC01786, MMP23A, 96 more genes
    nsv6315344copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-4,183,006 , GRCh38.p12 chr1: 914,086-4,122,946 DFFB, LOC105378604, 136 more genes
    nsv6315170copy number variation1nstd102humanPathogenic GRCh37 chr1: 834,101-7,930,605 , GRCh38.p12 chr1: 898,721-7,870,545 PRDM16-DT, CAMTA1-AS1, 186 more genes
    nsv6314841copy number variation1nstd102humanPathogenic GRCh38 chr1: 817,861-1,836,133 , GRCh37.p13 chr1: 753,241-1,767,572 LOC105378948, C1QTNF12, 76 more genes
    nsv6310988copy number variation1nstd102humanUncertain significance GRCh37 chr1: 989,123-3,160,711 , GRCh38.p12 chr1: 1,053,743-3,244,147 GNB1-DT, LOC107984909, 104 more genes
    nsv6310896copy number variation6nstd102humanUncertain significance, Pathogenic GRCh37 chr1: 861,322-3,768,971 , GRCh38.p12 chr1: 925,942-3,852,407 MMEL1-AS1, RER1, 127 more genes
    nsv6310838copy number variation1nstd102humanUncertain significance GRCh37 chr1: 955,553-3,350,375 , GRCh38.p12 chr1: 1,020,173-3,433,811 PRKCZ-DT, ANKRD65-AS1, 105 more genes
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