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Items: 1 to 20 of 578

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7138627insertion1nstd232human GRCh37.p13 chr21: 47,657,350-47,657,350 , GRCh38.p12 chr21: 46,237,436-46,237,436 MCM3AP, MCM3AP-AS1
    nsv7096335copy number variation1nstd102humanUncertain significance GRCh37 chr21: 47,690,295-47,705,200 , GRCh38.p12 chr21: 46,270,381-46,285,286 MCM3AP, YBEY
    nsv7096289copy number variation1nstd102humanUncertain significance GRCh37 chr21: 47,655,182-47,684,151 , GRCh38.p12 chr21: 46,235,268-46,264,237 MCM3AP, MCM3AP-AS1
    nsv7096096copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr21: 43,160,998-47,754,702 , GRCh38.p12 chr21: 41,740,838-46,334,788 TSPEAR, LINC01424, 158 more genes
    nsv7095814copy number variation1nstd102humanUncertain significance GRCh37 chr21: 47,699,887-47,705,200 , GRCh38.p12 chr21: 46,279,973-46,285,286 YBEY, MCM3AP
    nsv7095813copy number variation1nstd102humanPathogenic GRCh37 chr21: 47,684,011-47,705,200 , GRCh38.p12 chr21: 46,264,097-46,285,286 MCM3AP, YBEY
    nsv7037973copy number variation1nstd229human GRCh38 chr21: 46,121,114-46,351,190 , GRCh37.p13 chr21: 47,541,028-47,771,104 C21orf58, PCNT, 9 more genes
    nsv7035093copy number variation1nstd229human GRCh38 chr21: 46,216,096-46,257,871 , GRCh37.p13 chr21: 47,636,010-47,677,785 MCM3AP-AS1, MCM3AP, 1 more genes
    nsv7033089copy number variation1nstd229human GRCh38 chr21: 46,228,625-46,331,082 , GRCh37.p13 chr21: 47,648,539-47,750,996 MCM3AP, LSS, 4 more genes
    nsv7032252copy number variation1nstd229human GRCh38 chr21: 46,278,958-46,289,740 , GRCh37.p13 chr21: 47,698,872-47,709,654 YBEY, MCM3AP
    nsv7030243copy number variation1nstd229human GRCh38 chr21: 46,286,473-46,290,228 , GRCh37.p13 chr21: 47,706,387-47,710,142 YBEY, MCM3AP
    nsv7029910copy number variation1nstd229human GRCh38 chr21: 46,015,310-46,317,714 , GRCh37.p13 chr21: 47,435,224-47,737,628 MCM3AP, C21orf58, 10 more genes
    nsv7028103copy number variation1nstd229human GRCh38 chr21: 46,261,501-46,276,000 , GRCh37.p13 chr21: 47,681,415-47,695,914 MCM3AP
    nsv7026141copy number variation1nstd229human GRCh38 chr21: 46,237,401-46,238,700 , GRCh37.p13 chr21: 47,657,315-47,658,614 MCM3AP, MCM3AP-AS1
    nsv7022890copy number variation1nstd229human GRCh38 chr21: 46,275,382-46,366,879 , GRCh37.p13 chr21: 47,695,296-47,786,794 MCM3AP, C21orf58, 2 more genes
    nsv7020683copy number variation1nstd229human GRCh38 chr21: 46,090,901-46,241,100 , GRCh37.p13 chr21: 47,510,815-47,661,014 FTCD-AS1, MCM3AP-AS1, 6 more genes
    nsv7018480copy number variation1nstd229human GRCh38 chr21: 46,264,185-46,265,016 , GRCh37.p13 chr21: 47,684,099-47,684,930 MCM3AP
    nsv6637891copy number variation1nstd102humanUncertain significance GRCh37 chr21: 46,882,064-47,963,149 , GRCh38.p12 chr21: 45,462,150-46,543,236 C21orf58, PCNT, 25 more genes
    nsv6637626copy number variation1nstd102humanUncertain significance GRCh37 chr21: 47,500,415-48,097,372 , GRCh38.p12 chr21: 46,080,501-46,677,460 FTCD-AS1, PCNT, 16 more genes
    nsv6637307copy number variation1nstd102humanUncertain significance GRCh37 chr21: 47,563,980-48,097,372 , GRCh38.p12 chr21: 46,144,066-46,677,460 PCNT, DIP2A, 15 more genes
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