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Items: 1 to 20 of 176

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5943637copy number variation1nstd209human GRCh38 chr20: 3,224,665-3,224,754 , GRCh37.p13 chr20: 3,205,311-3,205,400 ITPA
    nsv5709424mobile element insertion1nstd211human GRCh38 chr20: 3,217,192-3,217,192 , GRCh37.p13 chr20: 3,197,838-3,197,838 ITPA
    nsv5673259copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 3,208,053-3,210,432 , GRCh38.p12 chr20: 3,227,407-3,229,786 ITPA, SLC4A11
    nsv5659306insertion1nstd207human GRCh38 chr20: 3,217,178-3,217,178 , GRCh37.p13 chr20: 3,197,824-3,197,824 ITPA
    nsv5564166copy number variation1nstd102humanUncertain significance GRCh37 chr20: 3,190,178-3,903,961 , GRCh38.p12 chr20: 3,209,532-3,923,314 ADAM33, AP5S1, 23 more genes
    nsv5533226copy number variation1nstd206human GRCh38 chr20: 68,334-3,826,335 , GRCh37.p13 chr20: 60,002-3,806,982 , SNORD110, 125 more genes
    nsv5523253copy number variation1nstd206human GRCh38 chr20: 3,224,117-3,224,432 , GRCh37.p13 chr20: 3,204,763-3,205,078 ITPA
    nsv5516924copy number variation1nstd206human GRCh38 chr20: 3,215,824-3,217,130 , GRCh37.p13 chr20: 3,196,470-3,197,776 ITPA
    nsv5422136mobile element insertion1nstd206human GRCh38 chr20: 3,217,192-3,217,243 , GRCh37.p13 chr20: 3,197,838-3,197,889 ITPA
    nsv5360013translocation1nstd200human GRCh38 chr20: 3,209,090-3,209,090 , GRCh38 chr20: 3,208,596-3,208,596 , GRCh37.p13 chr20: 3,189,242-3,189,242 , GRCh37.p13 chr20: 3,189,736-3,189,736 ITPA
    nsv5059954copy number variation1nstd102humanPathogenic GRCh37 chr20: 3,195,287-3,197,161 , GRCh38 chr20: 3,214,641-3,216,515 ITPA
    nsv4861687copy number variation1nstd200human GRCh37 chr20: 3,204,763-3,205,078 , GRCh38.p12 chr20: 3,224,117-3,224,432 ITPA
    nsv4729952copy number variation1nstd102humanUncertain significance GRCh37 chr20: 3,116,478-4,199,486 , GRCh38.p12 chr20: 3,135,832-4,218,839 LOC105372508, CDC25B, 35 more genes
    nsv4729947copy number variation1nstd102humanUncertain significance GRCh37 chr20: 3,092,739-4,939,933 , GRCh38.p12 chr20: 3,112,093-4,959,287 SF3A3P1, PRND, 46 more genes
    nsv4729753copy number variation1nstd102humanUncertain significance GRCh37 chr20: 2,802,218-4,010,802 , GRCh38.p12 chr20: 2,821,572-4,030,155 DDRGK1, LZTS3, 40 more genes
    nsv4681377copy number variation1nstd102humanPathogenic GRCh37 chr20: 3,208,053-3,219,846 , GRCh38.p12 chr20: 3,227,407-3,239,200 ITPA, SLC4A11
    nsv4676134copy number variation1nstd102humanUncertain significance GRCh37 chr20: 2,806,498-4,007,381 , GRCh38.p12 chr20: 2,825,852-4,026,734 MIR103B2, OXT, 40 more genes
    nsv4626453copy number variation1nstd183human GRCh37 chr20: 3,020,553-3,350,814 , GRCh38.p12 chr20: 3,039,907-3,370,167 DDRGK1, FASTKD5, 16 more genes
    nsv4450870copy number variation1nstd102humanUncertain significance GRCh37 chr20: 3,190,178-3,604,448 , GRCh38.p12 chr20: 3,209,532-3,623,801 SF3A3P1, ITPA, 8 more genes
    nsv4417768copy number variation1nstd174human GRCh37 chr20: 3,011,188-3,385,073 , GRCh38.p12 chr20: 3,030,542-3,404,426 LZTS3, UBOX5, 17 more genes
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