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Items: 1 to 20 of 796

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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
    nsv7095750copy number variation1nstd102humanUncertain significance GRCh37 chr1: 1,249,188-1,284,445 , GRCh38.p12 chr1: 1,313,808-1,349,065 CPTP, MIR6808, 3 more genes
    nsv7044349inversion1nstd229human GRCh38 chr1: 1,282,566-1,352,764 , GRCh37.p13 chr1: 1,217,946-1,288,144 PUSL1, MIR6808, 10 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
    nsv6641298copy number variation1nstd229human GRCh38 chr1: 1,326,035-1,396,309 , GRCh37.p13 chr1: 1,261,415-1,331,689 DVL1, CPTP, 6 more genes
    nsv6641269copy number variation1nstd229human GRCh38 chr1: 1,330,417-1,332,129 , GRCh37.p13 chr1: 1,265,797-1,267,509 TAS1R3
    nsv6637093copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,467-12,448,956 , GRCh38.p12 chr1: 914,087-12,388,897 VWA1, CEP104, 311 more genes
    nsv6637018copy number variation1nstd102humanUncertain significance GRCh37 chr1: 1,129,319-1,264,880 , GRCh38.p12 chr1: 1,193,939-1,329,500 SNORD167, TAS1R3, 15 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
    nsv6625738copy number variation1nstd224human GRCh37 chr1: 1,263,085-1,277,833 , GRCh38.p12 chr1: 1,327,705-1,342,453 DVL1, CPTP, 2 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
    nsv6625602copy number variation1nstd224human GRCh37 chr1: 1,226,757-1,268,687 , GRCh38.p12 chr1: 1,291,377-1,333,307 TAS1R3, ACAP3, 8 more genes
    nsv6625599copy number variation1nstd224human GRCh37 chr1: 1,220,954-1,268,482 , GRCh38.p12 chr1: 1,285,574-1,333,102 SCNN1D, INTS11, 7 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
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