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Items: 1 to 20 of 150

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6644477copy number variation1nstd229human GRCh38 chr1: 169,578,657-169,844,806 , GRCh37.p13 chr1: 169,547,895-169,813,947 F5, SELE, 6 more genes
    nsv6644305copy number variation1nstd229human GRCh38 chr1: 169,659,801-169,860,800 , GRCh37.p13 chr1: 169,629,039-169,829,941 SELE, SCYL3, 6 more genes
    nsv6644256copy number variation1nstd229human GRCh38 chr1: 168,110,598-170,953,728 , GRCh37.p13 chr1: 168,079,836-170,922,869 SELL, RPL7AP21, 55 more genes
    nsv6644040copy number variation1nstd229human GRCh38 chr1: 169,724,511-169,724,555 , GRCh37.p13 chr1: 169,693,652-169,693,696 SELE
    nsv6625875copy number variation1nstd224human GRCh37 chr1: 169,547,458-170,642,899 , GRCh38.p12 chr1: 169,578,220-170,673,758 SELP, GORAB, 23 more genes
    nsv6313719copy number variation1nstd102humanPathogenic GRCh37 chr1: 162,330,810-171,532,331 , GRCh38.p12 chr1: 162,361,020-171,563,192 LOC100420658, LOC105371610, 167 more genes
    nsv6313602copy number variation1nstd102humanPathogenic GRCh37 chr1: 167,391,422-171,843,613 , GRCh38.p12 chr1: 167,422,185-171,874,473 DCAF6, SELE, 101 more genes
    nsv6310918copy number variation1nstd102humanPathogenic GRCh37 chr1: 169,660,781-170,521,603 , GRCh38.p12 chr1: 169,691,640-170,552,462 GORAB-AS1, RN7SL333P, 18 more genes
    nsv6133933copy number variation1nstd213human GRCh37 chr1: 161,620,000-196,730,001 , GRCh38.p12 chr1: 161,650,210-196,760,871 FASLG, SERPINC1, 510 more genes
    nsv6133597copy number variation1nstd213human GRCh37 chr1: 167,470,000-170,370,001 , GRCh38.p12 chr1: 167,500,763-170,400,860 CD247, XCL1, 64 more genes
    nsv6133565copy number variation1nstd213human GRCh37 chr1: 164,310,000-170,640,001 , GRCh38.p12 chr1: 164,340,763-170,670,860 ATP1B1, DPT, 126 more genes
    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
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4674768copy number variation1nstd102humanPathogenic GRCh37 chr1: 167,430,471-174,635,618 , GRCh38.p12 chr1: 167,461,234-174,666,480 ATP1B1, RNU6-693P, 156 more genes
    nsv4674449copy number variation1nstd102humanUncertain significance GRCh37 chr1: 169,148,346-169,806,006 , GRCh38.p12 chr1: 169,179,108-169,836,865 SLC19A2, FIRRM, 10 more genes
    nsv4346686copy number variation1nstd102humanPathogenic GRCh37 chr1: 169,423,492-180,367,623 , GRCh38.p12 chr1: 169,454,254-180,398,488 TNFSF4, MIR3119-1, 202 more genes
    nsv4346684copy number variation1nstd102humanPathogenic GRCh37 chr1: 160,369,890-175,796,325 , GRCh38.p12 chr1: 160,400,100-175,827,189 LINC00626, RN7SL861P, 359 more genes
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
    nsv4063545copy number variation1nstd166human GRCh37.p13 chr1: 169,694,207-169,694,267 , GRCh38.p12 chr1: 169,725,066-169,725,126 SELE
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