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Items: 1 to 20 of 124

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5606084insertion2nstd207human GRCh38 chr1: 150,506,578-150,506,578 , GRCh37.p13 chr1: 150,479,054-150,479,054 ECM1, TARS2
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4903842copy number variation1nstd200human GRCh38 chr1: 150,406,738-150,700,622 , GRCh37.p13 chr1: 150,440,214-150,673,098 ADAMTSL4, ADAMTSL4-AS1, 16 more genes
    nsv4781176copy number variation1nstd200human GRCh37 chr1: 150,476,202-150,497,775 , GRCh38.p12 chr1: 150,503,726-150,525,299 ECM1, TARS2, 1 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761771insertion1nstd199human GRCh37 chr1: 150,479,046-150,479,046 , GRCh38.p12 chr1: 150,506,570-150,506,570 ECM1, TARS2
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4711089copy number variation1nstd195human GRCh37 chr1: 150,455,351-150,511,951 , GRCh38.p12 chr1: 150,482,875-150,539,475 ECM1, TARS2, 2 more genes
    nsv4459118mobile element insertion1nstd166human GRCh37.p13 chr1: 150,486,059-150,486,059 , GRCh38.p12 chr1: 150,513,583-150,513,583 ECM1
    nsv4453239copy number variation1nstd102humanUncertain significance GRCh37 chr1: 150,270,870-150,527,943 , GRCh38.p12 chr1: 150,298,445-150,555,467 MIR6878, PRPF3, 8 more genes
    nsv4057833copy number variation1nstd166human GRCh37.p13 chr1: 150,411,480-150,688,820 , GRCh38.p12 chr1: 150,439,004-150,716,344 ADAMTSL4-AS2, ADAMTSL4, 16 more genes
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , LOC101060227, 1608 more genes
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , CRB1, 1608 more genes
    nsv3910859copy number variation1nstd102humanUncertain significance NCBI36 chr1: 148,613,931-148,772,464 , GRCh37.p13 chr1|NW_003871055.3: 7,190,244-7,283,150 , GRCh37.p13 chr1: 150,347,307-150,505,840 , GRCh38.p12 chr1: 150,374,831-150,533,364 ECM1, MIR6878, 3 more genes
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332 HORMAD1, BCAN-AS1, 923 more genes
    nsv3895295copy number variation1nstd102humanLikely benign NCBI36 chr1: 148,453,763-148,804,107 , GRCh38 chr1: 150,214,843-150,565,007 , GRCh37 chr1: 150,187,139-150,537,483 MRPS21, RNU2-17P, 18 more genes
    nsv3887001copy number variation1nstd102humanBenign GRCh37 chr1: 150,455,813-150,526,044 , GRCh38.p12 chr1: 150,483,337-150,553,568 ECM1, ADAMTSL4, 5 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
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