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Items: 1 to 20 of 136

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095898copy number variation1nstd102humanPathogenic GRCh37 chr20: 42,223,339-44,638,757 , GRCh38.p12 chr20: 43,594,699-46,010,118 ADA, CCN5, 99 more genes
    nsv7062736inversion1nstd229human GRCh38 chr20: 36,955,253-45,585,462 , GRCh37.p13 chr20: 35,583,656-44,214,101 GDAP1L1, PI3, 177 more genes
    nsv7035305copy number variation1nstd229human GRCh38 chr20: 44,750,598-44,750,709 , GRCh37.p13 chr20: 43,379,239-43,379,350 KCNK15, RIMS4
    nsv7034451copy number variation1nstd229human GRCh38 chr20: 44,718,876-44,780,373 , GRCh37.p13 chr20: 43,347,517-43,409,014 KCNK15, CCN5, 2 more genes
    nsv6596116inversion1nstd223human GRCh38 chr20: 36,955,253-45,585,469 , GRCh37.p13 chr20: 35,583,656-44,214,108 LOC101929863, LOC105372620, 177 more genes
    nsv6290315copy number variation1nstd102humanPathogenic GRCh37 chr20: 42,985,044-48,599,046 , GRCh38.p12 chr20: 44,356,404-49,982,509 PABPC1L, LOC107985401, 170 more genes
    nsv6134297copy number variation1nstd213human GRCh37 chr20: 42,590,000-43,450,001 , GRCh38.p12 chr20: 43,961,360-44,821,360 ADA, OSER1, 22 more genes
    nsv6134164copy number variation1nstd213human GRCh37 chr20: 43,170,000-44,070,001 , GRCh38.p12 chr20: 44,541,359-45,441,361 PI3, SEMG2, 35 more genes
    nsv6123750copy number variation1nstd186human GRCh37 chr20: 43,379,239-43,379,351 , GRCh38.p12 chr20: 44,750,598-44,750,710 KCNK15, RIMS4
    nsv6103346insertion1nstd212human GRCh38 chr20: 44,745,397-44,745,397 , GRCh37.p13 chr20: 43,374,038-43,374,038 KCNK15-AS1, KCNK15
    nsv6101098insertion1nstd212human GRCh38 chr20: 44,750,637-44,750,637 , GRCh37.p13 chr20: 43,379,278-43,379,278 KCNK15, RIMS4
    nsv5976704inversion1nstd209human GRCh38 chr20: 36,955,252-45,585,469 , GRCh37.p13 chr20: 35,583,655-44,214,108 , ADA, 180 more genes
    nsv5963741copy number variation1nstd209human GRCh38 chr20: 44,750,598-44,750,708 , GRCh37.p13 chr20: 43,379,239-43,379,349 KCNK15, RIMS4
    nsv5667153insertion1nstd207human GRCh38 chr20: 44,745,387-44,745,387 , GRCh37.p13 chr20: 43,374,028-43,374,028 KCNK15, KCNK15-AS1
    nsv5552036insertion1nstd206human GRCh38 chr20: 44,750,652-44,750,673 , GRCh37.p13 chr20: 43,379,293-43,379,314 RIMS4, KCNK15
    nsv5528267copy number variation1nstd206human GRCh38 chr20: 44,750,598-44,750,710 , GRCh37.p13 chr20: 43,379,239-43,379,351 KCNK15, RIMS4
    nsv5366124translocation1nstd200human GRCh38 chr20: 44,732,603-44,732,603 , GRCh38 chr20: 44,744,430-44,744,430 , GRCh37.p13 chr20: 43,361,244-43,361,244 , GRCh37.p13 chr20: 43,373,071-43,373,071 KCNK15-AS1, KCNK15
    nsv5324090inversion1nstd204human GRCh37.p13 chr20: 35,583,652-44,214,109 , GRCh38.p13 chr20: 36,955,249-45,585,470 , BPI, 180 more genes
    nsv5161361mobile element insertion1nstd203human GRCh38 chr20: 44,744,901-44,744,913 , GRCh37.p13 chr20: 43,373,542-43,373,554 KCNK15-AS1, KCNK15
    nsv5033948inversion1nstd200human GRCh38 chr20: 36,955,253-45,585,464 , GRCh37.p13 chr20: 35,583,656-44,214,103 , EMILIN3, 180 more genes
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