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Items: 1 to 20 of 172

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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
    nsv7062736inversion1nstd229human GRCh38 chr20: 36,955,253-45,585,462 , GRCh37.p13 chr20: 35,583,656-44,214,101 GDAP1L1, PI3, 177 more genes
    nsv7018785copy number variation1nstd229human GRCh38 chr20: 45,201,672-45,307,913 , GRCh37.p13 chr20: 43,830,313-43,936,553 SEMG1, MATN4, 4 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
    nsv6553980copy number variation1nstd223human GRCh38 chr20: 45,316,353-45,323,691 , GRCh37.p13 chr20: 43,944,993-43,952,331 SDC4, RBPJL, 1 more genes
    nsv6551757copy number variation1nstd223human GRCh38 chr20: 45,292,251-45,325,447 , GRCh37.p13 chr20: 43,920,891-43,954,087 MATN4, SDC4, 2 more genes
    nsv6543716copy number variation1nstd223human GRCh38 chr20: 45,309,501-45,311,526 , GRCh37.p13 chr20: 43,938,141-43,940,166 RBPJL
    nsv6543536copy number variation1nstd223human GRCh38 chr20: 45,315,524-45,316,863 , GRCh37.p13 chr20: 43,944,164-43,945,503 RBPJL
    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
    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
    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
    nsv5976704inversion1nstd209human GRCh38 chr20: 36,955,252-45,585,469 , GRCh37.p13 chr20: 35,583,655-44,214,108 , ADA, 180 more genes
    nsv5976654insertion1nstd209human GRCh38 chr20: 45,305,805-45,305,805 , GRCh37.p13 chr20: 43,934,445-43,934,445 MATN4, RBPJL
    nsv5529092copy number variation1nstd206human GRCh38 chr20: 45,310,054-45,320,863 , GRCh37.p13 chr20: 43,938,694-43,949,503 TRV-CAC14-1, RBPJL
    nsv5515424copy number variation1nstd206human GRCh38 chr20: 45,319,906-45,320,497 , GRCh37.p13 chr20: 43,948,546-43,949,137 RBPJL, TRV-CAC14-1
    nsv5350403translocation1nstd200human GRCh38 chr20: 45,315,517-45,315,517 , GRCh38 chr20: 45,316,350-45,316,350 , GRCh37.p13 chr20: 43,944,990-43,944,990 , GRCh37.p13 chr20: 43,944,157-43,944,157 RBPJL
    nsv5329215copy number variation1nstd204human GRCh38.p13 chr20: 45,304,779-45,304,955 , GRCh37.p13 chr20: 43,933,419-43,933,595 MATN4, RBPJL
    nsv5324090inversion1nstd204human GRCh37.p13 chr20: 35,583,652-44,214,109 , GRCh38.p13 chr20: 36,955,249-45,585,470 , BPI, 180 more genes
    nsv5289567copy number variation1nstd204human GRCh38.p13 chr20: 45,310,234-45,320,005 , GRCh37.p13 chr20: 43,938,874-43,948,645 RBPJL
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