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Items: 1 to 20 of 279

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7144627insertion1nstd232human GRCh37.p13 chr21: 44,198,673-44,198,673 , GRCh38.p12 chr21: 42,778,563-42,778,563 LINC01668
    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
    nsv7076046inversion1nstd229human GRCh38 chr21: 42,633,367-44,550,173 , GRCh37.p13 chr21: 44,053,477-45,916,560 MYL6P1, MIR5692B, 68 more genes
    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
    nsv7033523copy number variation1nstd229human GRCh38 chr21: 42,761,823-42,809,798 , GRCh37.p13 chr21: 44,181,933-44,229,908 PDE9A, LINC01668, 1 more genes
    nsv7033115copy number variation1nstd229human GRCh38 chr21: 42,780,001-42,784,600 , GRCh37.p13 chr21: 44,200,111-44,204,710 LINC01668
    nsv7032841copy number variation1nstd229human GRCh38 chr21: 42,779,572-42,783,664 , GRCh37.p13 chr21: 44,199,682-44,203,774 LINC01668
    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
    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
    nsv7022376copy number variation1nstd229human GRCh38 chr21: 42,768,642-42,865,947 , GRCh37.p13 chr21: 44,188,752-44,286,057 LINC01668, LOC107985504, 2 more genes
    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
    nsv7019700copy number variation1nstd229human GRCh38 chr21: 42,772,142-42,849,927 , GRCh37.p13 chr21: 44,192,252-44,270,037 LINC01668, LOC107985504, 2 more genes
    nsv7018576copy number variation1nstd229human GRCh38 chr21: 42,776,127-42,776,229 , GRCh37.p13 chr21: 44,196,237-44,196,339 LINC01668, LOC107985504
    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
    nsv6315551copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,420,615-48,080,926 , GRCh38.p12 chr21: 13,048,294-46,661,014 LTN1, LOC105372740, 622 more genes
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