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Items: 1 to 20 of 79

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 PADI1, RPS15AP6, 176 more genes
    nsv5433102copy number variation1nstd206human GRCh38 chr1: 22,635,470-22,635,572 , GRCh37.p13 chr1: 22,961,963-22,962,065 C1QA
    nsv5427686copy number variation1nstd206human GRCh38 chr1: 22,064,395-28,290,354 , GRCh37.p13 chr1: 22,390,888-28,616,865 , NCMAP-DT, 201 more genes
    nsv4895290copy number variation1nstd200human GRCh38 chr1: 22,347,364-22,662,498 , GRCh37.p13 chr1: 22,673,857-22,988,991 C1QA, C1QB, 5 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4674101copy number variation1nstd102humanUncertain significance GRCh37 chr1: 22,883,477-22,973,340 , GRCh38.p12 chr1: 22,556,984-22,646,847 MIR6127, C1QC, 2 more genes
    nsv4460368mobile element insertion1nstd166human GRCh37.p13 chr1: 22,966,167-22,966,167 , GRCh38.p12 chr1: 22,639,674-22,639,674 C1QA
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436486complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 17,229,013-24,379,779 , GRCh37 chr1: 17,555,508-24,706,269 ALPL, C1QA, 174 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4050732copy number variation1nstd166human GRCh37.p13 chr1: 22,848,485-22,970,902 , GRCh38.p12 chr1: 22,521,992-22,644,409 MIR6127, C1QC, 3 more genes
    nsv4040414copy number variation1nstd166human GRCh37.p13 chr1: 22,962,323-22,962,393 , GRCh38.p12 chr1: 22,635,830-22,635,900 C1QA
    nsv3903895copy number variation1nstd102humanUncertain significance GRCh38 chr1: 21,399,130-22,696,747 , NCBI36 chr1: 21,598,210-22,895,827 , GRCh37 chr1: 21,725,623-23,023,240 PDE4DIPP10, USP48, 35 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
    nsv3125183copy number variation1nstd151human GRCh37 chr1: 22,816,439-22,987,884 , GRCh38.p12 chr1: 22,489,946-22,661,391 C1QA, C1QC, 4 more genes
    nsv3120718copy number variation2nstd151human GRCh37 chr1: 22,927,790-23,240,366 , GRCh38.p12 chr1: 22,601,297-22,913,873 C1QA, C1QB, 6 more genes
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