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Items: 1 to 20 of 155

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    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
    nsv6625672copy number variation1nstd224human GRCh37 chr1: 170,065,845-170,505,585 , GRCh38.p12 chr1: 170,096,704-170,536,444 GORAB, HAUS4P1, 8 more genes
    nsv6319574copy number variation1nstd223human GRCh38 chr1: 170,284,452-170,285,054 , GRCh37.p13 chr1: 170,253,593-170,254,195 LINC01142
    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
    nsv6133938copy number variation1nstd213human GRCh37 chr1: 169,800,000-170,240,001 , GRCh38.p12 chr1: 169,830,859-170,270,860 KIFAP3, FIRRM, 11 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
    nsv6133599copy number variation1nstd213human GRCh37 chr1: 170,240,000-170,570,001 , GRCh38.p12 chr1: 170,270,859-170,600,860 GORAB, LINC01142, 2 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
    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
    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
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