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Items: 1 to 20 of 130

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147836insertion1nstd232human GRCh37.p13 chr3: 48,646,736-48,646,736 , GRCh38.p12 chr3: 48,609,303-48,609,303 UQCRC1
    nsv7140084insertion1nstd232human GRCh37.p13 chr3: 48,638,274-48,638,274 , GRCh38.p12 chr3: 48,600,841-48,600,841 UQCRC1
    nsv7096805copy number variation1nstd102humanUncertain significance GRCh37 chr3: 45,435,946-49,137,751 , GRCh38.p12 chr3: 45,394,454-49,100,318 SNORA94, LIMD1-AS1, 120 more genes
    nsv6717725copy number variation1nstd229human GRCh38 chr3: 48,584,801-48,598,600 , GRCh37.p13 chr3: 48,622,234-48,636,033 COL7A1, UQCRC1
    nsv6711244copy number variation1nstd229human GRCh38 chr3: 48,593,201-48,635,400 , GRCh37.p13 chr3: 48,630,634-48,672,833 TMEM89, COL7A1, 5 more genes
    nsv6706413copy number variation1nstd229human GRCh38 chr3: 48,609,885-48,618,766 , GRCh37.p13 chr3: 48,647,318-48,656,199 UQCRC1, TMEM89
    nsv6704817copy number variation1nstd229human GRCh38 chr3: 48,609,303-48,609,553 , GRCh37.p13 chr3: 48,646,736-48,646,986 UQCRC1
    nsv6700836copy number variation1nstd229human GRCh38 chr3: 48,056,801-51,204,000 , GRCh37.p13 chr3: 48,098,291-51,241,431 APEH, SLC26A6, 129 more genes
    nsv6372055copy number variation1nstd223human GRCh38 chr3: 48,386,801-49,230,000 , GRCh37.p13 chr3: 48,428,291-49,267,433 NCKIPSD, UCN2, 44 more genes
    nsv6371025copy number variation1nstd223human GRCh38 chr3: 48,601,443-48,640,324 , GRCh37.p13 chr3: 48,638,876-48,677,757 SLC26A6, CELSR3, 4 more genes
    nsv6369350copy number variation1nstd223human GRCh38 chr3: 48,602,342-48,607,280 , GRCh37.p13 chr3: 48,639,775-48,644,713 SNORA94, UQCRC1
    nsv6365306copy number variation1nstd223human GRCh38 chr3: 48,429,601-48,926,800 , GRCh37.p13 chr3: 48,471,010-48,964,233 PRKAR2A-AS1, SNORA94, 25 more genes
    nsv6355776copy number variation1nstd223human GRCh38 chr3: 48,602,284-48,616,913 , GRCh37.p13 chr3: 48,639,717-48,654,346 SNORA94, UQCRC1
    nsv6315166copy number variation1nstd102humanPathogenic GRCh37 chr3: 44,948,482-49,115,809 , GRCh38.p12 chr3: 44,906,990-49,078,376 TMEM89, TGM4, 129 more genes
    nsv6134694copy number variation1nstd213human GRCh37 chr3: 46,170,000-52,140,001 , GRCh38.p12 chr3: 46,128,508-52,105,985 ACY1, AMT, 210 more genes
    nsv5902632copy number variation1nstd209human GRCh38 chr3: 48,609,302-48,609,550 , GRCh37.p13 chr3: 48,646,735-48,646,983 UQCRC1
    nsv5673729copy number variation1nstd102humanPathogenic GRCh37 chr3: 48,507,870-50,340,407 , GRCh38.p12 chr3: 48,466,471-50,302,976 SEMA3B-AS1, GNAT1, 87 more genes
    nsv5561912sequence alteration1nstd206human GRCh38 chr3: 46,623,292-58,677,536 , GRCh37.p13 chr3: 46,664,782-58,663,263 , CDC25A, 327 more genes
    nsv5377499translocation1nstd200human GRCh38 chr3: 48,609,631-48,609,631 , GRCh38 chr8: 51,743,153-51,743,153 , GRCh37.p13 chr8: 52,655,713-52,655,713 , GRCh37.p13 chr3: 48,647,064-48,647,064 PXDNL, UQCRC1
    nsv5037434inversion1nstd200human GRCh38 chr3: 5,031,119-56,902,223 , GRCh37.p13 chr3: 5,072,804-56,936,251 , IRAK2, 925 more genes
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