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Items: 1 to 20 of 212

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098813copy number variation1nstd102humanPathogenic GRCh37 chr12: 176,047-34,179,852 , GRCh38.p12 chr12: 66,881-34,026,917 TDGP1, RPS4XP14, 680 more genes
    nsv7094047copy number variation1nstd102humanUncertain significance GRCh37 chr12: 4,368,352-9,027,607 , GRCh38.p12 chr12: 4,259,186-8,875,011 ACRBP, OR7E148P, 165 more genes
    nsv7074628inversion1nstd229human GRCh38 chr12: 5,173,229-8,663,348 , GRCh37.p13 chr12: 5,282,395-8,815,944 P3H3, LOC105369621, 141 more genes
    nsv7072221inversion1nstd229human GRCh38 chr12: 4,055,290-11,695,188 , GRCh37.p13 chr12: 4,164,456-11,848,122 RN7SL69P, KLRA1P, 285 more genes
    nsv7068010inversion1nstd229human GRCh38 chr12: 7,025,778-10,225,656 , GRCh37.p13 chr12: 7,178,850-10,378,255 GOT2P3, CLEC2B, 123 more genes
    nsv7067994inversion1nstd229human GRCh38 chr12: 7,142,613-7,152,124 , GRCh37.p13 chr12: 7,295,209-7,304,720 CLSTN3
    nsv7064008inversion1nstd229human GRCh38 chr12: 6,716,253-10,225,825 , GRCh37.p13 chr12: 6,825,419-10,378,424 PTMAP4, COPS7A, 153 more genes
    nsv6929414copy number variation1nstd229human GRCh38 chr12: 7,147,653-7,148,031 , GRCh37.p13 chr12: 7,300,249-7,300,627 CLSTN3
    nsv6919870copy number variation1nstd229human GRCh38 chr12: 7,133,048-7,211,416 , GRCh37.p13 chr12: 7,285,644-7,364,012 CLSTN3, PEX5
    nsv6637376copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,787-8,320,544 , GRCh38.p12 chr12: 64,621-8,167,948 GCSHP4, RNU7-1, 220 more genes
    nsv6313934copy number variation1nstd102humanUncertain significance GRCh37 chr12: 6,530,146-7,376,398 , GRCh38.p12 chr12: 6,420,980-7,223,802 VAMP1, CD27-AS1, 60 more genes
    nsv6309483copy number variation1nstd102humanUncertain significance GRCh37 chr12: 6,438,478-8,756,953 , GRCh38.p12 chr12: 6,329,312-8,604,357 ENPP7P5, GPR162, 122 more genes
    nsv6309328copy number variation1nstd102humanUncertain significance GRCh37 chr12: 6,978,008-9,010,204 , GRCh38.p12 chr12: 6,868,844-8,857,608 LOC101927966, SNRPCP7, 87 more genes
    nsv6309326copy number variation2nstd102humanUncertain significance GRCh37 chr12: 6,438,478-8,248,686 , GRCh38.p12 chr12: 6,329,312-8,096,090 NANOGNB, SCNN1A, 94 more genes
    nsv6290254copy number variation1nstd102humanPathogenic GRCh37 chr12: 146,240-8,330,229 , GRCh38.p12 chr12: 45,740-8,177,633 CLEC4A, FBXL14, 220 more genes
    nsv6258587mobile element insertion1nstd215human GRCh38 chr12: 7,138,856-7,138,856 , GRCh37.p13 chr12: 7,291,452-7,291,452 CLSTN3
    nsv6132707copy number variation1nstd213human GRCh37 chr12: 6,680,000-7,290,001 , GRCh38.p12 chr12: 6,570,834-7,137,405 C1R, C1S, 46 more genes
    nsv6132704copy number variation1nstd213human GRCh37 chr12: 6,460,000-7,910,001 , GRCh38.p12 chr12: 6,350,834-7,757,405 APOBEC1, C1R, 78 more genes
    nsv6132608copy number variation1nstd213human GRCh37 chr12: 7,270,000-8,060,001 , GRCh38.p12 chr12: 7,117,404-7,907,405 CLSTN3, NANOG, 22 more genes
    nsv6132422copy number variation1nstd213human GRCh37 chr12: 190,000-30,830,001 , GRCh38.p12 chr12: 80,834-30,677,067 , A2M, 622 more genes
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