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Items: 1 to 20 of 522

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6131528insertion1nstd186human GRCh37 chr20: 62,077,013-62,077,032 , GRCh38.p12 chr20: 63,445,660-63,445,679 , GRCh38.p12 chr20|NT_187625.1: 31,792-31,812 KCNQ2-AS1, KCNQ2
    nsv6130778insertion1nstd186human GRCh37 chr20: 62,035,723-62,035,739 , GRCh38.p12 chr20: 63,404,370-63,404,386 KCNQ2
    nsv6129076copy number variation1nstd186human GRCh37 chr20: 62,081,039-62,081,089 , GRCh38.p12 chr20: 63,449,686-63,449,736 , GRCh38.p12 chr20|NT_187625.1: 36,088-36,138 KCNQ2, KCNQ2-AS1
    nsv6112778copy number variation1nstd102humanPathogenic GRCh37 chr20: 51,799,648-62,916,626 , GRCh38.p12 chr20: 53,183,109-64,285,273 LINC01742, MTCO2P1, 253 more genes
    nsv5968174insertion1nstd209human GRCh38 chr20: 63,445,628-63,445,628 , GRCh37.p13 chr20: 62,076,981-62,076,981 KCNQ2-AS1, KCNQ2
    nsv5962242copy number variation1nstd209human GRCh38 chr20: 63,461,695-63,461,757 , GRCh37.p13 chr20: 62,093,048-62,093,110 KCNQ2
    nsv5960354copy number variation1nstd209human GRCh38 chr20: 63,432,701-63,432,826 , GRCh37.p13 chr20: 62,064,054-62,064,179 KCNQ2
    nsv5958504copy number variation1nstd209human GRCh38 chr20: 63,399,457-63,399,519 , GRCh37.p13 chr20: 62,030,810-62,030,872 KCNQ2
    nsv5954227copy number variation1nstd209human GRCh38 chr20: 63,404,336-63,404,403 , GRCh37.p13 chr20: 62,035,689-62,035,756 KCNQ2
    nsv5953252copy number variation1nstd209human GRCh38 chr20: 63,466,256-63,466,306 , GRCh37.p13 chr20: 62,097,609-62,097,659 KCNQ2
    nsv5952670copy number variation1nstd209human GRCh38 chr20: 63,445,783-63,445,953 , GRCh37.p13 chr20: 62,077,136-62,077,306 KCNQ2, KCNQ2-AS1
    nsv5949406copy number variation1nstd209human GRCh38 chr20: 63,399,163-63,399,212 , GRCh37.p13 chr20: 62,030,516-62,030,565 KCNQ2
    nsv5948240copy number variation1nstd209human GRCh38 chr20: 63,470,202-63,470,260 , GRCh37.p13 chr20: 62,101,555-62,101,613 KCNQ2
    nsv5673421copy number variation1nstd102humanPathogenic GRCh37 chr20: 62,037,997-62,046,489 , GRCh38.p12 chr20: 63,406,644-63,415,136 KCNQ2, LOC105372724
    nsv5673420copy number variation1nstd102humanPathogenic GRCh37 chr20: 62,037,977-62,051,045 , GRCh38.p12 chr20: 63,406,624-63,419,692 LOC105372724, KCNQ2
    nsv5673419copy number variation1nstd102humanPathogenic GRCh37 chr20: 61,977,556-62,078,210 , GRCh38.p12 chr20: 63,346,204-63,446,857 CHRNA4, KCNQ2, 4 more genes
    nsv5673329copy number variation1nstd102humanPathogenic GRCh37 chr20: 62,046,246-62,055,569 , GRCh38.p12 chr20|NT_187625.1: 173-9,496 , GRCh38.p12 chr20: 63,414,893-63,424,216 KCNQ2
    nsv5673263copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 62,069,958-62,070,093 , GRCh38.p12 chr20: 63,438,605-63,438,740 , GRCh38.p12 chr20|NT_187625.1: 23,888-24,023 KCNQ2
    nsv5673262copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 62,050,952-62,078,210 , GRCh38.p12 chr20: 63,419,599-63,446,857 , GRCh38.p12 chr20|NT_187625.1: 4,879-32,162 KCNQ2, KCNQ2-AS1, 1 more genes
    nsv5673181copy number variation1nstd102humanPathogenic GRCh37 chr20: 62,076,002-62,324,646 , GRCh38.p12 chr20: 63,444,649-63,693,293 PPDPF, LOC105372725, 13 more genes
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