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Items: 1 to 20 of 296

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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
    nsv7076046inversion1nstd229human GRCh38 chr21: 42,633,367-44,550,173 , GRCh37.p13 chr21: 44,053,477-45,916,560 MYL6P1, MIR5692B, 68 more genes
    nsv7073104inversion1nstd229human GRCh38 chr21: 44,517,558-44,872,699 , GRCh37.p13 chr21|NW_004775435.1: 20,881-307,252 , GRCh37.p13 chr21: 45,937,441-46,223,846 KRTAP10-12, UBE2G2, 23 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
    nsv7035847copy number variation1nstd229human GRCh38 chr21: 44,500,405-44,526,091 , GRCh37.p13 chr21|NW_004775435.1: 3,728-29,414 , GRCh37.p13 chr21: 45,920,288-45,945,974 TSPEAR-AS2, TSPEAR, 1 more genes
    nsv7033301copy number variation1nstd229human GRCh38 chr21: 44,409,491-44,577,541 , GRCh37.p13 chr21: 45,829,374-45,916,560 TRPM2, MTND5P1, 14 more genes
    nsv7031672copy number variation1nstd229human GRCh38 chr21: 44,506,664-44,515,761 , GRCh37.p13 chr21|NW_004775435.1: 9,987-19,084 , GRCh37.p13 chr21: 45,926,547-45,935,644 TSPEAR, TSPEAR-AS1, 1 more genes
    nsv7030626copy number variation1nstd229human GRCh38 chr21: 44,293,426-44,549,165 , GRCh37.p13 chr21: 45,713,309-45,916,560 CFAP410, TRPM2-AS, 14 more genes
    nsv7027586copy number variation1nstd229human GRCh38 chr21: 44,501,184-44,542,483 , GRCh37.p13 chr21|NW_004775435.1: 4,507-45,806 , GRCh37.p13 chr21: 45,921,067-45,962,366 TSPEAR, TSPEAR-AS1, 2 more genes
    nsv7018620copy number variation1nstd229human GRCh38 chr21: 44,473,788-44,670,842 , GRCh37.p13 chr21|NW_004775435.1: 1-174,165 , GRCh37.p13 chr21: 45,916,561-46,090,759 KRTAP10-2, KRTAP10-9, 18 more genes
    nsv6637798copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,843,864-46,176,026 , GRCh38.p12 chr21: 44,423,981-44,756,111 MTCYBP21, KRTAP10-13P, 28 more genes
    nsv6637666copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,727,195-46,161,988 , GRCh38.p12 chr21: 44,307,312-44,742,073 LRRC3-DT, MTND5P1, 30 more genes
    nsv6634428copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,808,650-47,529,568 , GRCh38.p12 chr21: 44,388,767-46,109,654 KRTAP12-5P, MTCYBP21, 64 more genes
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6599512inversion1nstd223human GRCh38 chr21: 43,690,612-45,780,509 , GRCh37.p13 chr21: 45,110,493-47,200,423 ADARB1, AIRE, 84 more genes
    nsv6599116inversion1nstd223human GRCh38 chr21: 43,689,244-45,912,414 , GRCh37.p13 chr21: 45,109,125-47,332,328 ADARB1, AIRE, 85 more genes
    nsv6546352copy number variation1nstd223human GRCh38 chr21: 44,332,501-44,603,700 , GRCh37.p13 chr21: 45,752,384-45,916,560 TRPM2, MTND5P1, 17 more genes
    nsv6535810copy number variation1nstd223human GRCh38 chr21: 44,473,788-44,670,842 , GRCh37.p13 chr21: 45,916,561-46,090,759 , GRCh37.p13 chr21|NW_004775435.1: 1-174,165 KRTAP10-8, KRTAP10-7, 18 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
    nsv6315496copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,679,089-48,097,372 , GRCh38.p12 chr21: 41,307,162-46,677,460 TMEM97P1, LOC105372839, 177 more genes
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