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Items: 1 to 20 of 566

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7146547insertion1nstd232human GRCh37.p13 chr21: 43,990,219-43,990,219 , GRCh38.p12 chr21: 42,570,109-42,570,109 SLC37A1, LOC101928212
    nsv7140401copy number variation1nstd232human GRCh37.p13 chr21: 43,990,374-43,990,424 , GRCh38.p12 chr21: 42,570,264-42,570,314 SLC37A1, LOC101928212
    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
    nsv7076835inversion1nstd229human GRCh38 chr21: 42,564,796-42,564,807 , GRCh37.p13 chr21: 43,984,906-43,984,917 SLC37A1
    nsv7072799inversion1nstd229human GRCh38 chr21: 41,886,117-43,786,596 , GRCh37.p13 chr21: 43,306,226-45,206,477 ZNF295-AS1, LINC01668, 57 more genes
    nsv7064889inversion1nstd229human GRCh38 chr21: 41,632,756-44,900,321 , GRCh37.p13 chr21: 43,052,916-46,320,236 RNU6-1150P, LOC105372824, 123 more genes
    nsv7036967copy number variation1nstd229human GRCh38 chr21: 42,505,368-42,508,272 , GRCh37.p13 chr21: 43,925,478-43,928,382 SLC37A1
    nsv7036230copy number variation1nstd229human GRCh38 chr21: 42,528,001-42,530,400 , GRCh37.p13 chr21: 43,948,111-43,950,510 SLC37A1, LOC107987299
    nsv7034591copy number variation1nstd229human GRCh38 chr21: 42,563,271-42,568,487 , GRCh37.p13 chr21: 43,983,381-43,988,597 LOC101928212, SLC37A1
    nsv7027011copy number variation1nstd229human GRCh38 chr21: 42,282,878-43,017,165 , GRCh37.p13 chr21: 43,702,988-44,437,275 LOC105372817, RNU6-1149P, 23 more genes
    nsv7024099copy number variation1nstd229human GRCh38 chr21: 41,989,601-42,863,900 , GRCh37.p13 chr21: 43,409,710-44,284,010 PDE9A, RNA5SP492, 25 more genes
    nsv7023435copy number variation1nstd229human GRCh38 chr21: 42,516,001-42,521,600 , GRCh37.p13 chr21: 43,936,111-43,941,710 SLC37A1
    nsv7023253copy number variation1nstd229human GRCh38 chr21: 42,421,580-42,842,995 , GRCh37.p13 chr21: 43,841,689-44,263,105 LOC107987299, LOC101928255, 11 more genes
    nsv7022329copy number variation1nstd229human GRCh38 chr21: 42,560,743-42,576,715 , GRCh37.p13 chr21: 43,980,853-43,996,825 LOC101928212, SLC37A1
    nsv7019948copy number variation1nstd229human GRCh38 chr21: 40,558,832-43,971,067 , GRCh37.p13 chr21: 41,930,759-45,390,948 LOC105372821, PDXK, 86 more genes
    nsv6637459copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,046,399-45,109,188 , GRCh38.p12 chr21: 40,674,473-43,689,307 LOC101928255, RRP1B, 74 more genes
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6599575inversion1nstd223human GRCh38 chr21: 36,496,811-44,407,132 , GRCh37.p13 chr21: 37,869,109-45,827,015 AIRE, CFAP410, 175 more genes
    nsv6597481inversion1nstd223human GRCh38 chr21: 42,077,533-42,936,821 , GRCh37.p13 chr21: 43,497,642-44,356,931 TFF1, LOC107985504, 25 more genes
    nsv6552626copy number variation1nstd223human GRCh38 chr21: 42,542,701-42,544,500 , GRCh37.p13 chr21: 43,962,811-43,964,610 SLC37A1
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