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Items: 1 to 20 of 221

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7142579copy number variation1nstd232human GRCh37.p13 chr1: 215,792,411-215,792,492 , GRCh38.p12 chr1: 215,619,069-215,619,150 KCTD3
    nsv7099262copy number variation1nstd231human GRCh38.p12 chr1: 211,826,028-221,140,287 , GRCh37 chr1: 211,999,370-221,313,629 ATF3, CENPF, 114 more genes
    nsv7044254inversion1nstd229human GRCh38 chr1: 215,622,227-215,624,756 , GRCh37.p13 chr1: 215,795,569-215,798,098 USH2A, KCTD3
    nsv6674063copy number variation1nstd229human GRCh38 chr1: 215,571,523-215,687,822 , GRCh37.p13 chr1: 215,744,866-215,861,164 KCTD3, USH2A
    nsv6669068copy number variation1nstd229human GRCh38 chr1: 215,608,173-215,611,822 , GRCh37.p13 chr1: 215,781,515-215,785,164 KCTD3
    nsv6668831copy number variation1nstd229human GRCh38 chr1: 215,600,817-215,633,389 , GRCh37.p13 chr1: 215,774,159-215,806,731 USH2A, KCTD3
    nsv6668611copy number variation1nstd229human GRCh38 chr1: 215,591,752-215,591,864 , GRCh37.p13 chr1: 215,765,094-215,765,206 KCTD3
    nsv6666786copy number variation1nstd229human GRCh38 chr1: 215,615,373-215,615,508 , GRCh37.p13 chr1: 215,788,715-215,788,850 KCTD3
    nsv6638068copy number variation1nstd102humanassociation GRCh38 chr1: 208,430,918-228,938,006 , GRCh37.p13 chr1: 208,604,263-229,073,753 AURKAP1, TLR5, 372 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6553455inversion1nstd223human GRCh38 chr1: 215,575,070-215,576,323 , GRCh37.p13 chr1: 215,748,413-215,749,666 KCTD3
    nsv6328596copy number variation1nstd223human GRCh38 chr1: 215,575,957-215,576,528 , GRCh37.p13 chr1: 215,749,300-215,749,871 KCTD3
    nsv6322331copy number variation1nstd223human GRCh38 chr1: 215,572,801-215,574,500 , GRCh37.p13 chr1: 215,746,144-215,747,843 KCTD3
    nsv6321576copy number variation1nstd223human GRCh38 chr1: 215,619,683-215,672,853 , GRCh37.p13 chr1: 215,793,025-215,846,195 USH2A, KCTD3
    nsv6320529copy number variation1nstd223human GRCh38 chr1: 215,563,601-215,572,300 , GRCh37.p13 chr1: 215,736,944-215,745,643 KCTD3
    nsv6320064copy number variation1nstd223human GRCh38 chr1: 215,615,676-215,617,481 , GRCh37.p13 chr1: 215,789,018-215,790,823 KCTD3
    nsv6318672copy number variation1nstd223human GRCh38 chr1: 215,577,001-215,577,900 , GRCh37.p13 chr1: 215,750,344-215,751,243 KCTD3
    nsv6294373mobile element insertion1nstd186human GRCh37 chr1: 215,742,261-215,742,312 , GRCh38.p12 chr1: 215,568,918-215,568,969 KCTD3
    nsv6290569copy number variation1nstd102humanPathogenic GRCh37 chr1: 215,199,578-223,035,427 , GRCh38.p12 chr1: 215,026,235-222,862,085 SPATA17, BROX, 97 more genes
    nsv6166568copy number variation1nstd214human GRCh38 chr1: 215,615,360-215,615,493 , GRCh37.p13 chr1: 215,788,702-215,788,835 KCTD3
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