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Items: 1 to 20 of 204

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099196copy number variation1nstd231human GRCh38.p12 chr1: 42,172,633-43,430,191 , GRCh37 chr1: 42,638,304-43,895,862 CDC20, MPL, 43 more genes
    nsv7044550inversion1nstd229human GRCh38 chr1: 42,848,350-42,868,532 , GRCh37.p13 chr1: 43,314,021-43,334,203 ZNF691, LOC339539
    nsv6650202copy number variation1nstd229human GRCh38 chr1: 42,887,231-42,896,371 , GRCh37.p13 chr1: 43,352,902-43,362,042 LOC339539, MKRN8P, 1 more genes
    nsv6650201copy number variation1nstd229human GRCh38 chr1: 42,874,947-42,907,596 , GRCh37.p13 chr1: 43,340,618-43,373,267 LOC100420252, MKRN8P, 2 more genes
    nsv6650175copy number variation1nstd229human GRCh38 chr1: 42,877,390-42,879,037 , GRCh37.p13 chr1: 43,343,061-43,344,708 LOC339539
    nsv6650174copy number variation1nstd229human GRCh38 chr1: 42,860,389-42,860,434 , GRCh37.p13 chr1: 43,326,060-43,326,105 LOC339539
    nsv6650173copy number variation1nstd229human GRCh38 chr1: 42,852,566-42,866,535 , GRCh37.p13 chr1: 43,318,237-43,332,206 ZNF691, LOC339539
    nsv6650114copy number variation1nstd229human GRCh38 chr1: 42,722,501-42,895,500 , GRCh37.p13 chr1: 43,188,172-43,361,171 C1orf50, ZNF691, 10 more genes
    nsv6649683copy number variation1nstd229human GRCh38 chr1: 42,857,042-42,859,701 , GRCh37.p13 chr1: 43,322,713-43,325,372 LOC339539
    nsv6649682copy number variation1nstd229human GRCh38 chr1: 42,856,801-42,859,600 , GRCh37.p13 chr1: 43,322,472-43,325,271 LOC339539
    nsv6539844inversion1nstd223human GRCh38 chr1: 42,882,430-42,883,388 , GRCh37.p13 chr1: 43,348,101-43,349,059 LOC339539
    nsv6328268copy number variation1nstd223human GRCh38 chr1: 42,856,829-42,859,446 , GRCh37.p13 chr1: 43,322,500-43,325,117 LOC339539
    nsv6326791copy number variation1nstd223human GRCh38 chr1: 42,852,566-42,866,531 , GRCh37.p13 chr1: 43,318,237-43,332,202 LOC339539, ZNF691
    nsv6321389copy number variation1nstd223human GRCh38 chr1: 42,887,231-42,896,366 , GRCh37.p13 chr1: 43,352,902-43,362,037 LOC339539, LOC100420252, 1 more genes
    nsv6319306copy number variation1nstd223human GRCh38 chr1: 42,874,946-42,907,595 , GRCh37.p13 chr1: 43,340,617-43,373,266 MKRN8P, LOC100420252, 2 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6252770mobile element insertion1nstd215human GRCh38 chr1: 42,873,308-42,873,308 , GRCh37.p13 chr1: 43,338,979-43,338,979 LOC339539
    nsv6133994copy number variation1nstd213human GRCh37 chr1: 37,480,000-43,930,001 , GRCh38.p12 chr1: 37,014,399-43,464,330 BMP8B, CDC20, 183 more genes
    nsv5884607copy number variation1nstd209human GRCh38 chr1: 42,856,996-42,859,720 , GRCh37.p13 chr1: 43,322,667-43,325,391 LOC339539
    nsv5880455copy number variation1nstd209human GRCh38 chr1: 42,887,227-42,896,365 , GRCh37.p13 chr1: 43,352,898-43,362,036 LOC339539, MKRN8P, 1 more genes
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