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Items: 1 to 20 of 478

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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
    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
    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
    nsv7044352inversion1nstd229human GRCh38 chr1: 243,207,096-243,207,160 , GRCh37.p13 chr1: 243,370,398-243,370,462 CEP170
    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
    nsv6674783copy number variation1nstd229human GRCh38 chr1: 242,603,133-243,223,920 , GRCh37.p13 chr1: 242,766,435-243,387,222 CICP21, LINC01347, 8 more genes
    nsv6674064copy number variation1nstd229human GRCh38 chr1: 243,228,801-243,240,700 , GRCh37.p13 chr1: 243,392,103-243,404,002 CEP170
    nsv6671892copy number variation1nstd229human GRCh38 chr1: 243,170,482-243,346,731 , GRCh37.p13 chr1: 243,333,784-243,510,033 CEP170, SDCCAG8, 2 more genes
    nsv6670588copy number variation1nstd229human GRCh38 chr1: 243,116,216-243,131,362 , GRCh37.p13 chr1: 243,279,518-243,294,664 CEP170
    nsv6665093copy number variation1nstd229human GRCh38 chr1: 243,185,603-243,268,671 , GRCh37.p13 chr1: 243,348,905-243,431,973 SDCCAG8, CEP170, 1 more genes
    nsv6665068copy number variation1nstd229human GRCh38 chr1: 243,190,114-243,362,494 , GRCh37.p13 chr1: 243,353,416-243,525,796 FCF1P7, SDCCAG8, 2 more genes
    nsv6664856copy number variation1nstd229human GRCh38 chr1: 242,945,698-243,248,309 , GRCh37.p13 chr1: 243,109,000-243,411,611 LOC102724236, CEP170, 5 more genes
    nsv6663230copy number variation1nstd229human GRCh38 chr1: 243,230,095-243,233,699 , GRCh37.p13 chr1: 243,393,397-243,397,001 CEP170
    nsv6662919copy number variation1nstd229human GRCh38 chr1: 243,202,081-243,206,545 , GRCh37.p13 chr1: 243,365,383-243,369,847 CEP170
    nsv6662803copy number variation1nstd229human GRCh38 chr1: 243,212,801-243,213,717 , GRCh37.p13 chr1: 243,376,103-243,377,019 CEP170
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