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Items: 1 to 20 of 570

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv7076050inversion1nstd229human GRCh38 chr21: 45,605,764-46,186,956 , GRCh37.p13 chr21: 47,025,678-47,606,870 SPATC1L, PCBP3, 11 more genes
    nsv7065977inversion1nstd229human GRCh38 chr21: 46,100,911-46,189,866 , GRCh37.p13 chr21: 47,520,825-47,609,780 LSS, COL6A2, 3 more genes
    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
    nsv7037855copy number variation1nstd229human GRCh38 chr21: 46,184,781-46,216,755 , GRCh37.p13 chr21: 47,604,695-47,636,669 LSS, SPATC1L, 1 more genes
    nsv7037099copy number variation1nstd229human GRCh38 chr21: 46,226,199-46,229,740 , GRCh37.p13 chr21: 47,646,113-47,649,654 MCM3AP-AS1, LSS
    nsv7036872copy number variation1nstd229human GRCh38 chr21: 46,189,783-46,190,963 , GRCh37.p13 chr21: 47,609,697-47,610,877 LSS
    nsv7036785copy number variation1nstd229human GRCh38 chr21: 46,056,327-46,224,819 , GRCh37.p13 chr21: 47,476,241-47,644,733 FTCD, PSMA6P3, 5 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
    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
    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
    nsv7020575copy number variation1nstd229human GRCh38 chr21: 46,012,321-46,209,150 , GRCh37.p13 chr21: 47,432,235-47,629,064 SPATC1L, PSMA6P3, 6 more genes
    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
    nsv6626652copy number variation1nstd224human GRCh37 chr21: 47,552,006-47,666,788 , GRCh38.p12 chr21: 46,132,092-46,246,874 , GRCh38.p12 chr21|NT_187626.1: 1-82,692 COL6A2, LSS, 6 more genes
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6598684inversion1nstd223human GRCh38 chr21: 46,185,891-46,186,943 , GRCh37.p13 chr21: 47,605,805-47,606,857 LSS
    nsv6554517copy number variation1nstd223human GRCh38 chr21: 46,202,164-46,203,251 , GRCh37.p13 chr21: 47,622,078-47,623,165 LSS
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