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Items: 1 to 20 of 241

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7073377inversion1nstd229human GRCh38 chr21: 39,180,888-39,194,656 , GRCh37.p13 chr21: 40,552,814-40,566,582 PSMG1, BRWD1
    nsv7030226copy number variation1nstd229human GRCh38 chr21: 39,177,601-39,546,000 , GRCh37.p13 chr21: 40,549,527-40,917,927 LCA5L, BRWD1-AS1, 15 more genes
    nsv6637262copy number variation1nstd102humanUncertain significance GRCh37 chr21: 40,219,284-41,569,839 , GRCh38.p12 chr21: 38,847,360-40,197,912 LCA5L, JCADP1, 30 more genes
    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
    nsv6547571copy number variation1nstd223human GRCh38 chr21: 39,178,912-39,180,848 , GRCh37.p13 chr21: 40,550,838-40,552,774 PSMG1
    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
    nsv6291620copy number variation1nstd102humanUncertain significance GRCh37 chr21: 39,892,114-40,905,632 , GRCh38.p12 chr21: 38,520,190-39,533,705 LINC02940, BRWD1-AS1, 28 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
    nsv6137566translocation1nstd213human GRCh38.p12 chr21: 39,175,445-39,175,445 , GRCh37 chr21: 40,547,371-40,547,371 , GRCh38.p12 chr12: 122,971,937-122,971,937 , GRCh37 chr12: 123,456,484-123,456,484 PSMG1, ABCB9
    nsv6137343translocation1nstd213human GRCh38.p12 chr21: 39,175,380-39,175,380 , GRCh37 chr21: 40,547,306-40,547,306 , GRCh37 chr17: 73,788,383-73,788,383 , GRCh38.p12 chr17: 75,792,302-75,792,302 PSMG1, UNK
    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
    nsv5545309copy number variation1nstd206human GRCh38 chr21: 39,183,501-39,183,612 , GRCh37.p13 chr21: 40,555,427-40,555,538 PSMG1, BRWD1
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5029400copy number variation1nstd200human GRCh38 chr21: 38,724,060-39,235,977 , GRCh37.p13 chr21: 40,095,984-40,607,903 , LINC02940, 14 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
    nsv4729836copy number variation1nstd102humanUncertain significance GRCh37 chr21: 39,270,345-41,091,831 , GRCh38.p12 chr21: 37,898,042-39,719,904 ERG, DSCR8, 43 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
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