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Items: 1 to 20 of 735

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148273copy number variation1nstd102humanPathogenic GRCh38 chrX: 41,333,187-42,099,271 , GRCh37.p13 chrX: 41,192,440-41,958,524 GEMIN7P1, RNU6-202P, 11 more genes
    nsv7148177copy number variation1nstd102humanPathogenic GRCh38 chrX: 41,786,713-41,853,325 , GRCh37.p13 chrX: 41,645,966-41,712,578 CASK
    nsv7137157inversion1nstd234human GRCh37 chrX: 31,626,542-82,320,140 , GRCh38.p12 chrX: 31,608,425-83,065,132 ABCB7, ACTG1P10, 775 more genes
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7098662copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chrX: 41,712,348-41,782,241 , GRCh38.p12 chrX: 41,853,095-41,922,988 RNU6-202P, CASK
    nsv7098661copy number variation1nstd102humanPathogenic GRCh37 chrX: 41,598,617-41,604,874 , GRCh38.p12 chrX: 41,739,364-41,745,621 CASK
    nsv7098660copy number variation1nstd102humanPathogenic GRCh37 chrX: 41,428,901-41,429,019 , GRCh38.p12 chrX: 41,569,648-41,569,766 RNU6-1321P, CASK
    nsv7098530copy number variation1nstd102humanUncertain significance GRCh37 chrX: 40,440,318-41,782,241 , GRCh38.p12 chrX: 40,581,066-41,922,988 RN7SL144P, TNIP2P1, 27 more genes
    nsv7098313copy number variation1nstd102humanUncertain significance GRCh37 chrX: 41,446,140-41,530,803 , GRCh38.p12 chrX: 41,586,887-41,671,550 CASK
    nsv7098312copy number variation1nstd102humanPathogenic GRCh37 chrX: 41,412,952-41,429,019 , GRCh38.p12 chrX: 41,553,699-41,569,766 CASK, RNU6-1321P
    nsv7098311copy number variation1nstd102humanPathogenic GRCh37 chrX: 41,401,924-41,416,373 , GRCh38.p12 chrX: 41,542,671-41,557,120 CASK
    nsv7098310copy number variation1nstd102humanUncertain significance GRCh37 chrX: 41,393,939-41,420,917 , GRCh38.p12 chrX: 41,534,686-41,561,664 CASK
    nsv7098307copy number variation3nstd102humanPathogenic, Uncertain significance GRCh37 chrX: 39,911,362-41,782,241 , GRCh38.p12 chrX: 40,052,109-41,922,988 LOC107985687, BCOR, 33 more genes
    nsv7087319copy number variation1nstd229human GRCh38 chrX: 41,909,918-41,910,274 , GRCh37.p13 chrX: 41,769,171-41,769,527 CASK
    nsv7087318copy number variation1nstd229human GRCh38 chrX: 41,883,432-41,883,977 , GRCh37.p13 chrX: 41,742,685-41,743,230 CASK
    nsv7087317copy number variation1nstd229human GRCh38 chrX: 41,876,801-41,883,900 , GRCh37.p13 chrX: 41,736,054-41,743,153 CASK
    nsv7087316copy number variation1nstd229human GRCh38 chrX: 41,875,421-41,893,227 , GRCh37.p13 chrX: 41,734,674-41,752,480 CASK
    nsv7087315copy number variation1nstd229human GRCh38 chrX: 41,857,500-41,868,153 , GRCh37.p13 chrX: 41,716,753-41,727,406 CASK
    nsv7087314copy number variation1nstd229human GRCh38 chrX: 41,855,888-41,873,566 , GRCh37.p13 chrX: 41,715,141-41,732,819 CASK
    nsv7087313copy number variation1nstd229human GRCh38 chrX: 41,855,021-41,855,207 , GRCh37.p13 chrX: 41,714,274-41,714,460 CASK
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