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Items: 1 to 20 of 168

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147975insertion1nstd232human GRCh37.p13 chr12: 6,965,316-6,965,316 , GRCh38.p12 chr12: 6,856,152-6,856,152 USP5
    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
    nsv7064008inversion1nstd229human GRCh38 chr12: 6,716,253-10,225,825 , GRCh37.p13 chr12: 6,825,419-10,378,424 PTMAP4, COPS7A, 153 more genes
    nsv6932275copy number variation1nstd229human GRCh38 chr12: 6,855,401-6,870,800 , GRCh37.p13 chr12|NW_003871083.2: 56,985-72,384 , GRCh37.p13 chr12: 6,964,565-6,979,964 SPSB2, TPI1, 1 more genes
    nsv6929842copy number variation1nstd229human GRCh38 chr12: 6,866,701-6,873,100 , GRCh37.p13 chr12|NW_003871083.2: 68,285-74,684 , GRCh37.p13 chr12: 6,975,865-6,982,264 TPI1, USP5, 1 more genes
    nsv6925230copy number variation1nstd229human GRCh38 chr12: 6,418,401-6,902,400 , GRCh37.p13 chr12: 6,527,567-6,907,580 SPSB2, PKP2P1, 36 more genes
    nsv6918252copy number variation1nstd229human GRCh38 chr12: 6,861,555-6,867,679 , GRCh37.p13 chr12: 6,970,719-6,976,843 , GRCh37.p13 chr12|NW_003871083.2: 63,139-69,263 TPI1, USP5
    nsv6637376copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,787-8,320,544 , GRCh38.p12 chr12: 64,621-8,167,948 GCSHP4, RNU7-1, 220 more genes
    nsv6472373copy number variation1nstd223human GRCh38 chr12: 6,012,501-7,083,600 , GRCh37.p13 chr12: 6,121,667-7,189,876 GPR162, CD27, 71 more genes
    nsv6472196copy number variation1nstd223human GRCh38 chr12: 6,013,501-7,083,700 , GRCh37.p13 chr12: 6,122,667-7,189,876 SCARNA10, ATP5MFP5, 71 more genes
    nsv6314186copy number variation1nstd102humanUncertain significance GRCh37 chr12: 6,872,634-7,244,086 , GRCh38.p12 chr12: 6,763,468-7,091,490 DSTNP2, ENO2, 30 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
    nsv6309486copy number variation1nstd102humanUncertain significance GRCh37 chr12: 6,950,452-6,979,547 , GRCh38.p12 chr12: 6,841,288-6,870,383 GNB3, TPI1, 3 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
    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
    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
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