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Items: 1 to 20 of 145

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5669161insertion1nstd207human GRCh38 chr20: 36,609,156-36,609,156 , GRCh37.p13 chr20: 35,237,559-35,237,559 RAB5IF, TGIF2-RAB5IF
    nsv5560305sequence alteration1nstd206human GRCh38 chr20: 36,507,286-36,660,208 , GRCh37.p13 chr20: 35,135,689-35,288,611 , MYL9, 8 more genes
    nsv5518009copy number variation1nstd206human GRCh38 chr20: 36,609,115-36,609,173 , GRCh37.p13 chr20: 35,237,518-35,237,576 RAB5IF, TGIF2-RAB5IF
    nsv5350313translocation1nstd200human GRCh38 chr20: 36,609,062-36,609,062 , GRCh38 chr20: 36,609,303-36,609,303 , GRCh37.p13 chr20: 35,237,465-35,237,465 , GRCh37.p13 chr20: 35,237,706-35,237,706 TGIF2-RAB5IF, RAB5IF
    nsv5028491copy number variation1nstd200human GRCh38 chr20: 36,610,637-36,610,716 , GRCh37.p13 chr20: 35,239,040-35,239,119 TGIF2-RAB5IF, RAB5IF, 1 more genes
    nsv5025558copy number variation1nstd200human GRCh38 chr20: 36,607,389-36,620,929 , GRCh37.p13 chr20: 35,235,792-35,249,332 TGIF2-RAB5IF, HNRNPA3P2, 2 more genes
    nsv5022343copy number variation1nstd200human GRCh38 chr20: 32,602,560-45,347,064 , GRCh37.p13 chr20: 31,190,362-43,975,704 , SNHG11, 286 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
    nsv5022326copy number variation1nstd200human GRCh38 chr20: 32,216,214-44,981,731 , GRCh37.p13 chr20: 30,804,017-43,610,372 , HNF4A, 279 more genes
    nsv4868753copy number variation1nstd200human GRCh37 chr20: 35,237,465-35,237,706 , GRCh38.p12 chr20: 36,609,062-36,609,303 TGIF2-RAB5IF, RAB5IF
    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
    nsv4868578copy number variation1nstd200human GRCh37 chr20: 30,804,017-43,610,372 , GRCh38.p12 chr20: 32,216,214-44,981,731 , SNORA71C, 279 more genes
    nsv4777571mobile element deletion1nstd200human GRCh37 chr20: 35,233,032-35,233,300 , GRCh38.p12 chr20: 36,604,629-36,604,897 , TGIF2-RAB5IF, 1 more genes
    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
    nsv4642575copy number variation1nstd186human GRCh37 chr20: 35,237,597-35,237,659 , GRCh38.p12 chr20: 36,609,194-36,609,256 TGIF2-RAB5IF, RAB5IF
    nsv4618778copy number variation1nstd183human GRCh37 chr20: 35,228,691-35,238,083 , GRCh38.p12 chr20: 36,600,288-36,609,680 , TGIF2-RAB5IF, 1 more genes
    nsv4560533insertion1nstd166human GRCh37.p13 chr20: 35,237,585-35,237,585 , GRCh38.p12 chr20: 36,609,182-36,609,182 TGIF2-RAB5IF, RAB5IF
    nsv4535418copy number variation1nstd166human GRCh37.p13 chr20: 35,237,597-35,237,659 , GRCh38.p12 chr20: 36,609,194-36,609,256 TGIF2-RAB5IF, RAB5IF
    nsv4291481copy number variation1nstd166human GRCh37.p13 chr20: 35,237,489-35,237,750 , GRCh38.p12 chr20: 36,609,086-36,609,347 TGIF2-RAB5IF, RAB5IF
    nsv4290283copy number variation1nstd166human GRCh37.p13 chr20: 35,237,488-35,237,577 , GRCh38.p12 chr20: 36,609,085-36,609,174 RAB5IF, TGIF2-RAB5IF
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