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Items: 1 to 20 of 33158

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6137784copy number variation1nstd102humanUncertain significance GRCh37 chr19: 11,221,454-11,221,454 , GRCh38 chr19: 11,105,168-11,105,169 LDLR
    nsv6137720copy number variation1nstd102humanBenign GRCh37 chr16: 1,254,947-1,255,030 , GRCh38 chr16: 1,204,947-1,205,030 CACNA1H
    nsv6137702copy number variation1nstd102humanPathogenic GRCh37 chr9: 35,059,633-37,660,586 , GRCh38.p12 chr9: 35,059,636-37,660,589 ARHGEF39, LOC105376026, 84 more genes
    nsv6137663copy number variation1nstd102humannot provided GRCh38 chr2: 46,009,609-46,144,092 , GRCh37.p13 chr2: 46,236,748-46,371,231 PRKCE
    nsv6131202insertion1nstd186human GRCh37 chr19: 54,402,184-54,402,187 , GRCh38.p12 chr19: 53,898,930-53,898,933 PRKCG
    nsv6131079mobile element insertion1nstd186human GRCh37 chr17: 64,637,294-64,637,345 , GRCh38.p12 chr17: 66,641,176-66,641,227 PRKCA
    nsv6131074insertion1nstd186human GRCh37 chr19: 47,220,476-47,220,520 , GRCh38.p12 chr19: 46,717,219-46,717,263 PRKD2, LOC107987269
    nsv6129765insertion1nstd186human GRCh37 chr16: 1,235,650-1,235,680 , GRCh38.p12 chr16: 1,185,650-1,185,680 CACNA1H
    nsv6129462insertion1nstd186human GRCh37 chr14: 24,794,428-24,794,428 , GRCh38.p12 chr14: 24,325,222-24,325,222 , GRCh38.p12 chr14|NW_018654722.1: 626,200-626,200 ADCY4
    nsv6127427insertion1nstd186human GRCh37 chr12: 2,323,901-2,323,901 , GRCh38.p12 chr12|NW_018654718.1: 556,879-556,879 , GRCh38.p12 chr12: 2,214,735-2,214,735 CACNA1C
    nsv6127090insertion1nstd186human GRCh37 chr10: 12,457,219-12,457,261 , GRCh38.p12 chr10: 12,415,220-12,415,262 CAMK1D
    nsv6126556copy number variation1nstd186human GRCh37 chr17: 64,332,752-64,332,805 , GRCh38.p12 chr17: 66,336,634-66,336,687 PRKCA
    nsv6125378insertion1nstd186human GRCh37 chr12: 26,650,425-26,650,472 , GRCh38.p12 chr12: 26,497,492-26,497,539 ITPR2
    nsv6124825insertion1nstd186human GRCh37 chr5: 7,704,113-7,704,113 , GRCh38.p12 chr5: 7,704,000-7,704,000 ADCY2
    nsv6123893insertion1nstd186human GRCh37 chr10: 12,455,573-12,455,573 , GRCh38.p12 chr10: 12,413,574-12,413,574 CAMK1D
    nsv6121447copy number variation1nstd186human GRCh37 chr16: 24,070,222-24,070,272 , GRCh38.p12 chr16: 24,058,901-24,058,951 PRKCB
    nsv6121199copy number variation1nstd186human GRCh37 chr12: 2,241,178-2,257,996 , GRCh38.p12 chr12: 2,132,012-2,148,830 , GRCh38.p12 chr12|NW_018654718.1: 474,156-490,974 LOC107984131, CACNA1C
    nsv6120693copy number variation1nstd186human GRCh37 chr12: 125,334,263-125,334,700 , GRCh38.p12 chr12: 124,849,717-124,850,154 SCARB1
    nsv6117673copy number variation1nstd186human GRCh37 chr6: 31,948,777-32,013,177 , GRCh38.p12 chr6: 31,981,000-32,045,400 C4A, C4B, 6 more genes
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