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Items: 1 to 20 of 227

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7036860copy number variation1nstd229human GRCh38 chr21: 41,143,187-41,146,391 , GRCh37.p13 chr21: 42,515,114-42,518,318 LINC00323
    nsv7026018copy number variation1nstd229human GRCh38 chr21: 41,080,842-41,187,171 , GRCh37.p13 chr21: 42,452,769-42,559,098 BACE2, LINC00323, 2 more genes
    nsv7019948copy number variation1nstd229human GRCh38 chr21: 40,558,832-43,971,067 , GRCh37.p13 chr21: 41,930,759-45,390,948 LOC105372821, PDXK, 86 more genes
    nsv6637459copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,046,399-45,109,188 , GRCh38.p12 chr21: 40,674,473-43,689,307 LOC101928255, RRP1B, 74 more genes
    nsv6635472copy number variation1nstd227human GRCh38.p12 chr21: 40,919,752-41,146,107 , GRCh37 chr21: 42,291,678-42,518,034 LINC00323
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6599575inversion1nstd223human GRCh38 chr21: 36,496,811-44,407,132 , GRCh37.p13 chr21: 37,869,109-45,827,015 AIRE, CFAP410, 175 more genes
    nsv6315551copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,420,615-48,080,926 , GRCh38.p12 chr21: 13,048,294-46,661,014 LTN1, LOC105372740, 622 more genes
    nsv6313951copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,041,209-48,097,372 , GRCh38.p12 chr21: 13,668,888-46,677,460 LOC107985515, ATP5PF, 606 more genes
    nsv6289996copy number variation1nstd102humanPathogenic GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 KRTAP7-1, MAP3K7CL, 656 more genes
    nsv6134198copy number variation1nstd213human GRCh37 chr21: 39,600,000-42,850,001 , GRCh38.p12 chr21: 38,228,078-41,478,074 ETS2, KCNJ15, 54 more genes
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv5037314copy number variation1nstd200human GRCh38 chr21: 41,080,842-41,187,176 , GRCh37.p13 chr21: 42,452,769-42,559,103 , MIR3197, 3 more genes
    nsv4865869copy number variation1nstd200human GRCh37 chr21: 42,452,769-42,559,103 , GRCh38.p12 chr21: 41,080,842-41,187,176 , MIR3197, 3 more genes
    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
    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
    nsv4676372copy number variation1nstd102humanPathogenic GRCh37 chr21: 39,410,438-45,171,756 , GRCh38.p12 chr21: 38,038,136-43,751,875 KCNJ15, SPATA20P1, 126 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
    nsv4502930mobile element insertion1nstd166human GRCh37.p13 chr21: 42,520,197-42,520,197 , GRCh38.p12 chr21: 41,148,270-41,148,270 , LINC00323
    nsv4436112copy number variation1nstd102humanUncertain significance GRCh37 chr21: 42,300,424-43,682,911 , GRCh38.p12 chr21: 40,928,498-42,262,801 MIR3197, MX1, 28 more genes
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