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Items: 1 to 20 of 380

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5673340copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,705,880-45,707,026 , GRCh38.p12 chr21: 44,285,997-44,287,143 AIRE
    nsv5673271copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,705,870-45,711,113 , GRCh38.p12 chr21: 44,285,987-44,291,230 AIRE
    nsv5673270copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,705,870-45,707,494 , GRCh38.p12 chr21: 44,285,987-44,287,611 AIRE
    nsv5536698copy number variation1nstd206human GRCh38 chr21: 44,299,104-44,299,171 , GRCh37.p13 chr21: 45,718,987-45,719,054 PFKL, AIRE
    nsv5381312copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,717,519-45,717,610 , GRCh38.p12 chr21: 44,297,636-44,297,727 AIRE
    nsv5375568translocation1nstd200human GRCh38 chr21: 44,310,100-44,310,100 , GRCh38 chr21: 44,296,933-44,296,933 , GRCh37.p13 chr21: 45,729,983-45,729,983 , GRCh37.p13 chr21: 45,716,816-45,716,816 AIRE, PFKL
    nsv5328724copy number variation1nstd204human GRCh38.p13 chr21: 44,287,252-44,293,305 , GRCh37.p13 chr21: 45,707,135-45,713,188 AIRE
    nsv5297848copy number variation1nstd204human GRCh38.p13 chr21: 44,287,611-44,293,560 , GRCh37.p13 chr21: 45,707,494-45,713,443 AIRE
    nsv5037124copy number variation1nstd200human GRCh38 chr21: 44,264,657-44,404,143 , GRCh37.p13 chr21: 45,684,540-45,824,026 CFAP410, AIRE, 2 more genes
    nsv4863438copy number variation1nstd200human GRCh37 chr21: 45,707,143-45,713,180 , GRCh38.p12 chr21: 44,287,260-44,293,297 AIRE
    nsv4863434copy number variation1nstd200human GRCh37 chr21: 45,684,540-45,824,026 , GRCh38.p12 chr21: 44,264,657-44,404,143 TRPM2, PFKL, 2 more genes
    nsv4764467insertion1nstd199human GRCh37 chr21: 45,719,030-45,719,030 , GRCh38.p12 chr21: 44,299,147-44,299,147 AIRE, PFKL
    nsv4730021copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,629,063-48,090,317 , GRCh38.p12 chr21: 13,256,742-46,670,405 SLX9, LOC105372750, 619 more genes
    nsv4682298copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,717,519-45,717,630 , GRCh38.p12 chr21: 44,297,636-44,297,747 AIRE
    nsv4681891copy number variation1nstd102humanUncertain significance GRCh37 chr21: 43,792,871-46,330,697 , GRCh38.p12 chr21: 42,372,762-44,910,782 DNMT3L-AS1, WDR4, 100 more genes
    nsv4679058copy number variation1nstd189human GRCh37.p13 chr21: 14,468,835-48,129,895 , GRCh38.p12 chr21: 13,096,514-46,699,983 , ADARB1, 652 more genes
    nsv4676376copy number variation1nstd102humanPathogenic GRCh37 chr21: 43,472,147-48,097,372 , GRCh38.p12 chr21: 42,052,038-46,677,460 LOC101928369, MTND6P21, 157 more genes
    nsv4676321copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,044,877-48,100,155 , GRCh38.p12 chr21: 40,672,951-46,680,243 SLC19A1, LINC03039, 183 more genes
    nsv4676266copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,125,672-48,097,372 , GRCh38.p12 chr21: 43,705,791-46,677,460 LOC105372826, ADARB1, 107 more genes
    nsv4676152copy number variation1nstd102humanLikely pathogenic GRCh37 chr21: 45,490,774-48,097,372 , GRCh38.p12 chr21: 44,070,893-46,677,460 ADARB1, AIRE, 93 more genes
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