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Items: 1 to 20 of 826

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148257copy number variation1nstd102humanPathogenic GRCh38 chr1: 242,164,274-245,299,473 , GRCh37.p13 chr1: 242,327,576-245,462,775 RN7SKP12, ZBTB18, 51 more genes
    nsv7148184copy number variation1nstd102humanPathogenic GRCh38 chr1: 243,221,458-248,919,110 , GRCh37.p13 chr1: 243,384,760-249,213,309 LOC105373271, LOC107985725, 153 more genes
    nsv7148175copy number variation1nstd102humanPathogenic GRCh38 chr1: 230,178,121-243,646,135 , GRCh37.p13 chr1: 230,313,867-243,809,437 AGT, MAP10, 221 more genes
    nsv7148158copy number variation1nstd102humanPathogenic GRCh38 chr1: 235,215,476-247,005,888 , GRCh37.p13 chr1: 235,378,791-247,169,190 RNU6-747P, LINC01139, 172 more genes
    nsv7099272copy number variation1nstd231human GRCh38.p12 chr1: 243,197,153-248,437,482 , GRCh37 chr1: 243,360,455-248,600,783 ADSS2, HNRNPU, 124 more genes
    nsv7096041copy number variation1nstd102humanUncertain significance GRCh37 chr1: 243,504,321-243,507,653 , GRCh38.p12 chr1: 243,341,019-243,344,351 , GRCh38.p12 chr1|NT_187519.1: 353,127-356,459 MIR4677, SDCCAG8
    nsv7096040copy number variation1nstd102humanUncertain significance GRCh37 chr1: 243,456,373-243,456,541 , GRCh38.p12 chr1|NT_187519.1: 305,179-305,347 , GRCh38.p12 chr1: 243,293,071-243,293,239 SDCCAG8
    nsv7096039copy number variation1nstd102humanPathogenic GRCh37 chr1: 243,335,979-243,419,562 , GRCh38.p12 chr1: 243,172,677-243,256,260 , GRCh38.p12 chr1|NT_187519.1: 184,785-268,368 CEP170, SDCCAG8
    nsv7095985copy number variation1nstd102humanPathogenic GRCh37 chr1: 243,652,296-243,859,038 , GRCh38.p12 chr1: 243,488,994-243,695,736 , GRCh38.p12 chr1|NT_187519.1: 501,102-707,844 FABP7P1, AKT3, 1 more genes
    nsv7095607copy number variation1nstd102humanUncertain significance GRCh37 chr1: 243,437,825-243,437,978 , GRCh38.p12 chr1|NT_187519.1: 286,631-286,784 , GRCh38.p12 chr1: 243,274,523-243,274,676 SDCCAG8
    nsv7095522copy number variation1nstd102humanUncertain significance GRCh37 chr1: 243,507,497-243,507,653 , GRCh38.p12 chr1: 243,344,195-243,344,351 , GRCh38.p12 chr1|NT_187519.1: 356,303-356,459 MIR4677, SDCCAG8
    nsv7095520copy number variation1nstd102humanUncertain significance GRCh37 chr1: 241,661,128-244,218,672 , GRCh38.p12 chr1: 241,497,828-244,055,370 LOC105373231, LOC105373234, 39 more genes
    nsv7093073copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 243,542,166-243,581,269 , GRCh38.p12 chr1: 243,378,864-243,417,967 , GRCh38.p12 chr1|NT_187519.1: 390,972-430,075 SDCCAG8
    nsv7051679inversion1nstd229human GRCh38 chr1: 243,353,903-243,353,937 , GRCh37.p13 chr1: 243,517,205-243,517,239 SDCCAG8
    nsv7048845inversion1nstd229human GRCh38 chr1: 243,361,870-243,361,956 , GRCh37.p13 chr1: 243,525,172-243,525,258 SDCCAG8
    nsv7046123inversion1nstd229human GRCh38 chr1: 243,412,792-243,412,823 , GRCh37.p13 chr1: 243,576,094-243,576,125 SDCCAG8
    nsv7043741inversion1nstd229human GRCh38 chr1: 241,706,058-244,559,726 , GRCh37.p13 chr1: 241,869,360-244,723,028 LOC105373231, LINC02774, 44 more genes
    nsv7042644inversion1nstd229human GRCh38 chr1: 242,956,479-245,125,990 , GRCh37.p13 chr1: 243,119,781-245,289,292 LINC02774, TGIF2P1, 36 more genes
    nsv6677432copy number variation1nstd229human GRCh38 chr1: 243,445,723-243,447,537 , GRCh37.p13 chr1: 243,609,025-243,610,839 SDCCAG8
    nsv6676546copy number variation1nstd229human GRCh38 chr1: 243,454,816-243,459,164 , GRCh37.p13 chr1: 243,618,118-243,622,466 SDCCAG8
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