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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112757copy number variation1nstd102humanPathogenic GRCh37 chr2: 220,056,891-227,164,817 , GRCh38.p12 chr2: 219,192,169-226,300,101 DES, SPEG, 100 more genes
    nsv5953983insertion1nstd209human GRCh38 chr2: 223,789,812-223,789,812 , GRCh37.p13 chr2: 224,654,529-224,654,529 AP1S3
    nsv5904585copy number variation1nstd209human GRCh38 chr2: 223,754,556-223,755,152 , GRCh37.p13 chr2: 224,619,273-224,619,869 AP1S3
    nsv5832518copy number variation1nstd209human GRCh38 chr2: 223,771,431-223,772,753 , GRCh37.p13 chr2: 224,636,148-224,637,470 AP1S3
    nsv5832219copy number variation1nstd209human GRCh38 chr2: 223,830,459-223,842,426 , GRCh37.p13 chr2: 224,695,176-224,707,143 AP1S3
    nsv5582587copy number variation1nstd207human GRCh38 chr2: 223,817,623-223,818,120 , GRCh37.p13 chr2: 224,682,340-224,682,837 AP1S3
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5549015insertion1nstd206human GRCh38 chr2: 223,789,812-223,789,824 , GRCh37.p13 chr2: 224,654,529-224,654,541 AP1S3
    nsv5452846copy number variation1nstd206human GRCh38 chr2: 223,817,235-223,818,123 , GRCh37.p13 chr2: 224,681,952-224,682,840 AP1S3
    nsv5445547copy number variation1nstd206human GRCh38 chr2: 223,815,969-223,831,999 , GRCh37.p13 chr2: 224,680,686-224,696,716 AP1S3
    nsv5438750copy number variation1nstd206human GRCh38 chr2: 223,754,558-223,755,153 , GRCh37.p13 chr2: 224,619,275-224,619,870 AP1S3
    nsv5366838translocation1nstd200human GRCh38 chr2: 223,761,553-223,761,553 , GRCh38 chr2: 223,759,084-223,759,084 , GRCh37.p13 chr2: 224,623,801-224,623,801 , GRCh37.p13 chr2: 224,626,270-224,626,270 AP1S3
    nsv5361367translocation1nstd200human GRCh38 chr2: 223,754,558-223,754,558 , GRCh38 chr2: 223,755,153-223,755,153 , GRCh37.p13 chr2: 224,619,275-224,619,275 , GRCh37.p13 chr2: 224,619,870-224,619,870 AP1S3
    nsv5330493translocation1nstd200human GRCh37 chr2: 224,619,870-224,619,870 , GRCh37 chr2: 224,619,275-224,619,275 , GRCh38.p12 chr2: 223,755,153-223,755,153 , GRCh38.p12 chr2: 223,754,558-223,754,558 AP1S3
    nsv5304073copy number variation1nstd204human GRCh38.p13 chr2: 223,817,462-223,818,129 , GRCh37.p13 chr2: 224,682,179-224,682,846 AP1S3
    nsv5075667mobile element insertion1nstd203human GRCh38 chr2: 223,818,123-223,818,123 , GRCh37.p13 chr2: 224,682,840-224,682,840 AP1S3
    nsv5038383inversion1nstd200human GRCh38 chr2: 222,072,838-224,063,267 , GRCh37.p13 chr2: 222,937,557-224,927,984 GAPDHP49, ACSL3-AS1, 31 more genes
    nsv4917094copy number variation1nstd200human GRCh38 chr2: 223,804,754-224,066,342 , GRCh37.p13 chr2: 224,669,471-224,931,059 MRPL44, AP1S3, 3 more genes
    nsv4913975copy number variation1nstd200human GRCh38 chr2: 223,830,292-223,842,917 , GRCh37.p13 chr2: 224,695,009-224,707,634 AP1S3
    nsv4885260inversion1nstd200human GRCh37 chr2: 222,937,557-224,927,984 , GRCh38.p12 chr2: 222,072,838-224,063,267 CCDC140, WDFY1, 31 more genes
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