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Items: 1 to 20 of 253

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7073521inversion1nstd229human GRCh38 chr21: 36,750,767-37,285,523 , GRCh37.p13 chr21: 38,123,068-38,657,825 HLCS, DPRXP5, 11 more genes
    nsv7060386inversion1nstd229human GRCh38 chr21: 34,646,865-38,528,329 , GRCh37.p13 chr21: 36,019,164-39,900,253 , TTC3-AS1, 70 more genes
    nsv7036311copy number variation1nstd229human GRCh38 chr21: 37,218,099-37,218,288 , GRCh37.p13 chr21: 38,590,400-38,590,589 DSCR9
    nsv7026739copy number variation1nstd229human GRCh38 chr21: 36,961,668-37,296,745 , GRCh37.p13 chr21: 38,333,968-38,669,047 RN7SL678P, TTC3, 8 more genes
    nsv7019447copy number variation1nstd229human GRCh38 chr21: 37,189,037-37,258,522 , GRCh37.p13 chr21: 38,561,338-38,630,823 RN7SL678P, TTC3, 3 more genes
    nsv7018117copy number variation1nstd229human GRCh38 chr21: 36,782,268-37,274,486 , GRCh37.p13 chr21: 38,154,569-38,646,787 RNA5SP491, TTC3, 11 more genes
    nsv6637992copy number variation1nstd102humanUncertain significance GRCh37 chr21: 38,131,869-38,787,404 , GRCh38.p12 chr21: 36,759,568-37,415,102 TTC3, TTC3-AS1, 12 more genes
    nsv6626876copy number variation1nstd224human GRCh37 chr21: 38,538,018-38,676,646 , GRCh38.p12 chr21: 37,165,716-37,304,344 VPS26C, TTC3-AS1, 3 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
    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
    nsv6313951copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,041,209-48,097,372 , GRCh38.p12 chr21: 13,668,888-46,677,460 LOC107985515, ATP5PF, 606 more genes
    nsv6311248copy number variation2nstd102humanUncertain significance GRCh37 chr21: 32,439,271-39,212,984 , GRCh38.p12 chr21: 31,066,952-37,840,682 ATP5PO, LOC105372789, 131 more genes
    nsv6311159copy number variation1nstd102humanUncertain significance GRCh37 chr21: 37,507,491-39,212,984 , GRCh38.p12 chr21: 36,135,193-37,840,682 CLDN14-AS1, KCNJ6-AS1, 32 more genes
    nsv6289996copy number variation1nstd102humanPathogenic GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 KRTAP7-1, MAP3K7CL, 656 more genes
    nsv6283731copy number variation1nstd214human GRCh38 chr21: 37,214,322-37,214,434 , GRCh37.p13 chr21: 38,586,623-38,586,735 RN7SL678P, DSCR9
    nsv6251887mobile element insertion1nstd215human GRCh38 chr21: 37,210,707-37,210,707 , GRCh37.p13 chr21: 38,583,008-38,583,008 DSCR9
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv5699153mobile element insertion2nstd211human GRCh38 chr21: 37,210,707-37,210,707 , GRCh37.p13 chr21: 38,583,008-38,583,008 DSCR9
    nsv5666086insertion1nstd207human GRCh38 chr21: 37,210,697-37,210,697 , GRCh37.p13 chr21: 38,582,998-38,582,998 DSCR9
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