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Items: 1 to 20 of 149

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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
    nsv7075825inversion1nstd229human GRCh38 chr20: 45,232,922-45,712,689 , GRCh37.p13 chr20: 43,861,563-44,341,328 PIGT, LOC105372630, 33 more genes
    nsv7033534copy number variation1nstd229human GRCh38 chr20: 45,614,405-45,625,123 , GRCh37.p13 chr20: 44,243,044-44,253,762 WFDC9
    nsv7032555copy number variation1nstd229human GRCh38 chr20: 45,604,601-45,614,200 , GRCh37.p13 chr20: 44,233,240-44,242,839 WFDC9
    nsv7018276copy number variation1nstd229human GRCh38 chr20: 45,620,847-45,638,333 , GRCh37.p13 chr20: 44,249,486-44,266,972 WFDC9, WFDC10A
    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
    nsv6134034copy number variation1nstd213human GRCh37 chr20: 44,070,000-44,320,001 , GRCh38.p12 chr20: 45,441,360-45,691,362 EPPIN, RPL5P2, 15 more genes
    nsv6133816copy number variation1nstd213human GRCh37 chr20: 43,650,000-45,170,001 , GRCh38.p12 chr20: 45,021,359-46,541,362 MMP9, PI3, 76 more genes
    nsv5022342copy number variation1nstd200human GRCh38 chr20: 32,576,247-46,538,786 , GRCh37.p13 chr20: 31,164,049-45,167,425 , NECAB3, 350 more genes
    nsv4868593copy number variation1nstd200human GRCh37 chr20: 31,164,049-45,167,425 , GRCh38.p12 chr20: 32,576,247-46,538,786 , MMP24-AS1-EDEM2, 350 more genes
    nsv4708000translocation1nstd195human GRCh37 chr11: 41,093,831-41,093,831 , GRCh37 chr20: 44,244,525-44,244,525 , GRCh38.p12 chr11: 41,072,281-41,072,281 , GRCh38.p12 chr20: 45,615,886-45,615,886 LRRC4C, WFDC9
    nsv4707133translocation1nstd195human GRCh37 chr11: 41,093,831-41,093,831 , GRCh37 chr20: 44,244,526-44,244,526 , GRCh38.p12 chr11: 41,072,281-41,072,281 , GRCh38.p12 chr20: 45,615,887-45,615,887 LRRC4C, WFDC9
    nsv4674805copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 34,980,430-46,806,549 , GRCh38.p12 chr20: 36,352,027-48,177,806 ADA, BPI, 266 more genes
    nsv4282346copy number variation1nstd166human GRCh37.p13 chr20: 44,122,756-44,415,725 , GRCh38.p12 chr20: 45,494,116-45,787,086 EPPIN-WFDC6, MIR3617, 19 more genes
    nsv3920218copy number variation1nstd102humanPathogenic GRCh37 chr20: 80,198-62,908,674 , GRCh38 chr20: 99,557-64,277,321 , NCBI36 chr20: 28,198-62,379,118 MIR3646, NPEPL1, 1310 more genes
    nsv3915005copy number variation1nstd102humanPathogenic NCBI36 chr20: 42,849,759-62,379,118 , GRCh37 chr20: 43,416,345-62,908,674 , GRCh38 chr20: 44,787,704-64,277,321 FTLP1, RNA5SP487, 472 more genes
    nsv3912723copy number variation1nstd102humanPathogenic NCBI36 chr20: 30,288,202-45,731,170 , GRCh37.p13 chr20: 30,824,541-46,297,763 , GRCh38.p12 chr20: 32,236,738-47,669,019 LOC107985448, LOC105372613, 370 more genes
    nsv3910818copy number variation1nstd102humanUncertain significance NCBI36 chr20: 25,616,026-62,435,964 , GRCh37.p13 chr20: 25,668,026-62,965,520 , GRCh38.p12 chr20: 25,687,390-64,334,167 RNA5SP481, LOC105372625, 855 more genes
    nsv3910049copy number variation1nstd102humanPathogenic NCBI36 chr20: 33,289,165-45,693,969 , GRCh37 chr20: 33,825,749-46,260,562 , GRCh38 chr20: 35,237,946-47,631,818 NDUFB4P10, EIF4EBP2P1, 291 more genes
    nsv3905072copy number variation1nstd102humanPathogenic GRCh37 chr20: 63,244-62,948,788 , GRCh38.p12 chr20: 82,603-64,317,435 LRRN4, SNRPB, 1313 more genes
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