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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7096606copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,456,088-211,479,828 , GRCh38.p12 chr2: 210,591,364-210,615,104 CPS1
    nsv7096605copy number variation1nstd102humanUncertain significance GRCh37 chr2: 211,421,458-211,542,709 , GRCh38.p12 chr2: 210,556,734-210,677,985 CPS1, CPS1-IT1
    nsv7096604copy number variation1nstd102humanPathogenic GRCh37 chr2: 210,636,797-213,403,254 , GRCh38.p12 chr2: 209,772,073-212,538,530 MTCO1P46, LOC100420775, 19 more genes
    nsv7096394copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,421,433-211,473,293 , GRCh38.p12 chr2: 210,556,709-210,608,569 CPS1
    nsv7096232copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,507,198-211,515,172 , GRCh38.p12 chr2: 210,642,474-210,650,448 CPS1
    nsv7096231copy number variation1nstd102humanUncertain significance GRCh37 chr2: 211,503,854-211,503,959 , GRCh38.p12 chr2: 210,639,130-210,639,235 CPS1
    nsv7096192copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 211,436,160-211,541,748 , GRCh38.p12 chr2: 210,571,436-210,677,024 CPS1, CPS1-IT1
    nsv7096128copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,469,816-211,477,027 , GRCh38.p12 chr2: 210,605,092-210,612,303 CPS1
    nsv7093050copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 211,523,321-211,524,166 , GRCh38 chr2: 210,658,597-210,659,442 CPS1
    nsv7057497inversion1nstd229human GRCh38 chr2: 210,599,891-210,602,211 , GRCh37.p13 chr2: 211,464,615-211,466,935 CPS1
    nsv7055871inversion1nstd229human GRCh38 chr2: 210,665,893-210,672,376 , GRCh37.p13 chr2: 211,530,617-211,537,100 CPS1
    nsv7052181inversion1nstd229human GRCh38 chr2: 210,494,450-210,511,993 , GRCh37.p13 chr2: 211,359,174-211,376,717 CPS1
    nsv7043622inversion1nstd229human GRCh38 chr2: 210,669,715-210,672,378 , GRCh37.p13 chr2: 211,534,439-211,537,102 CPS1
    nsv6696228copy number variation1nstd229human GRCh38 chr2: 210,649,644-210,656,032 , GRCh37.p13 chr2: 211,514,368-211,520,756 CPS1
    nsv6692456copy number variation1nstd229human GRCh38 chr2: 210,496,101-210,502,800 , GRCh37.p13 chr2: 211,360,825-211,367,524 CPS1
    nsv6691200copy number variation1nstd229human GRCh38 chr2: 210,487,439-210,491,898 , GRCh37.p13 chr2: 211,352,163-211,356,622 CPS1
    nsv6690784copy number variation1nstd229human GRCh38 chr2: 210,555,990-210,562,348 , GRCh37.p13 chr2: 211,420,714-211,427,072 CPS1
    nsv6689218copy number variation1nstd229human GRCh38 chr2: 210,503,401-210,506,100 , GRCh37.p13 chr2: 211,368,125-211,370,824 CPS1
    nsv6688331copy number variation1nstd229human GRCh38 chr2: 210,534,364-210,534,819 , GRCh37.p13 chr2: 211,399,088-211,399,543 CPS1
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