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Items: 1 to 20 of 146

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096216copy number variation2nstd102humanUncertain significance GRCh37 chr2: 178,095,513-179,914,668 , GRCh38.p12 chr2: 177,230,785-179,049,941 CYCTP, LOC100130691, 29 more genes
    nsv6696120copy number variation1nstd229human GRCh38 chr2: 178,004,201-178,027,800 , GRCh37.p13 chr2: 178,868,928-178,892,527 SDHDP5, PDE11A
    nsv6690344copy number variation1nstd229human GRCh38 chr2: 178,014,384-178,026,009 , GRCh37.p13 chr2: 178,879,111-178,890,736 SDHDP5, PDE11A
    nsv6689091copy number variation1nstd229human GRCh38 chr2: 177,992,301-178,034,200 , GRCh37.p13 chr2: 178,857,028-178,898,927 SDHDP5, PDE11A, 1 more genes
    nsv6685164copy number variation1nstd229human GRCh38 chr2: 177,890,553-178,083,055 , GRCh37.p13 chr2: 178,755,280-178,947,782 RNU6-629P, PDE11A, 2 more genes
    nsv6637158copy number variation1nstd102humanUncertain significance GRCh37 chr2: 178,668,652-178,924,538 , GRCh38.p12 chr2: 177,803,925-178,059,811 PDE11A, RNU6-629P, 2 more genes
    nsv6637115copy number variation1nstd102humanPathogenic GRCh37 chr2: 175,143,352-180,999,636 , GRCh38.p12 chr2: 174,278,624-180,134,909 RNU6-5P, LOC101927073, 107 more genes
    nsv6548314inversion1nstd223human GRCh38 chr2: 177,986,552-178,841,553 , GRCh37.p13 chr2: 178,851,279-179,706,280 RNU6-629P, RNU5E-9P, 17 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6291405copy number variation1nstd102humanUncertain significance GRCh37 chr2: 178,734,167-178,912,784 , GRCh38.p12 chr2: 177,869,440-178,048,057 SDHDP5, API5P2, 2 more genes
    nsv6290841copy number variation1nstd102humanUncertain significance GRCh37 chr2: 178,749,120-178,948,115 , GRCh38.p12 chr2: 177,884,393-178,083,388 RNU6-629P, SDHDP5, 2 more genes
    nsv6134634copy number variation1nstd213human GRCh37 chr2: 178,870,000-179,940,001 , GRCh38.p12 chr2: 178,005,273-179,075,274 TTN, PRKRA, 18 more genes
    nsv6134500copy number variation1nstd213human GRCh37 chr2: 149,790,000-179,310,001 , GRCh38.p12 chr2: 148,934,069-178,445,274 , ACVR1, 394 more genes
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5381341copy number variation1nstd102humanPathogenic GRCh37 chr2: 171,999,572-182,774,361 , GRCh38.p12 chr2: 171,143,062-181,909,634 ALDH7A1P2, LOC101927055, 174 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4909829copy number variation1nstd200human GRCh38 chr2: 177,890,556-178,083,055 , GRCh37.p13 chr2: 178,755,283-178,947,782 PDE11A, SDHDP5, 2 more genes
    nsv4909827copy number variation1nstd200human GRCh38 chr2: 177,868,399-178,049,737 , GRCh37.p13 chr2: 178,733,126-178,914,464 SDHDP5, PDE11A, 2 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4768307copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,078,055-182,119,617 , GRCh38.p12 chr2: 162,221,545-181,254,890 RBM45, LOC102724194, 258 more genes
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