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Items: 1 to 20 of 449

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6116599copy number variation1nstd186human GRCh37 chr1: 1,836,994-1,843,669 , GRCh38.p12 chr1: 1,905,555-1,912,230 CALML6
    nsv5885327copy number variation1nstd209human GRCh38 chr1: 1,903,609-1,912,244 , GRCh37.p13 chr1: 1,835,048-1,843,683 CALML6
    nsv5878446copy number variation1nstd209human GRCh38 chr1: 1,742,246-1,991,840 , GRCh37.p13 chr1: 1,673,685-1,923,279 GNB1, SLC35E2A, 7 more genes
    nsv5433209copy number variation1nstd206human GRCh38 chr1: 1,905,555-1,912,230 , GRCh37.p13 chr1: 1,836,994-1,843,669 CALML6
    nsv5424728copy number variation1nstd206human GRCh38 chr1: 1,912,339-1,913,756 , GRCh37.p13 chr1: 1,843,778-1,845,195 CALML6
    nsv5218353copy number variation1nstd204human GRCh38.p13 chr1: 1,841,001-2,652,000 , GRCh37.p13 chr1: 1,772,440-2,583,439 RER1, CALML6, 28 more genes
    nsv5205043copy number variation1nstd204human GRCh38.p13 chr1: 1,900,601-2,260,100 , GRCh37.p13 chr1: 1,832,040-2,191,539 LOC107984872, LOC105378589, 12 more genes
    nsv4894259copy number variation1nstd200human GRCh38 chr1: 1,834,972-2,057,981 , GRCh37.p13 chr1: 1,766,411-1,989,420 PRKCZ-DT, GABRD, 9 more genes
    nsv4889427copy number variation1nstd200human GRCh38 chr1: 1,905,930-1,913,695 , GRCh37.p13 chr1: 1,837,369-1,845,134 CALML6
    nsv4772093copy number variation1nstd200human GRCh37 chr1: 1,766,411-1,989,420 , GRCh38.p12 chr1: 1,834,972-2,057,981 PRKCZ-DT, TMEM52, 9 more genes
    nsv4728693copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-2,033,256 , GRCh38.p12 chr1: 914,086-2,101,817 SDF4, GNB1-DT, 80 more genes
    nsv4728597copy number variation1nstd102humanLikely pathogenic GRCh38.p12 chr1: 1,786,142-1,979,440 , GRCh37 chr1: 1,717,581-1,910,879 GNB1, CFAP74, 4 more genes
    nsv4728263copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-1,976,788 , GRCh38.p12 chr1: 914,086-2,045,349 VWA1, MRPL20, 78 more genes
    nsv4728227copy number variation1nstd102humanUncertain significance GRCh37 chr1: 1,791,789-2,033,256 , GRCh38.p12 chr1: 1,860,350-2,101,817 GNB1, PRKCZ, 9 more genes
    nsv4728187copy number variation1nstd102humanPathogenic GRCh37 chr1: 1-5,592,835 , GRCh38.p12 chr1: 10,001-5,532,775 UBE2J2, MRPL20, 196 more genes
    nsv4685972copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 762,080-7,309,686 , GRCh38.p12 chr1: 826,700-7,249,626 CDK11B, DFFB, 184 more genes
    nsv4685575copy number variation1nstd102humanPathogenic GRCh37 chr1: 1,670,720-3,816,863 , GRCh38.p12 chr1: 1,739,281-3,900,299 LOC105378593, LOC105378590, 65 more genes
    nsv4683585copy number variation1nstd102humanPathogenic GRCh37 chr1: 955,543-2,238,214 , GRCh38.p12 chr1: 1,020,163-2,306,775 CPTP, PRKCZ, 74 more genes
    nsv4683478copy number variation1nstd102humanUncertain significance GRCh37 chr1: 955,543-3,350,385 , GRCh38.p12 chr1: 1,020,163-3,433,821 GNB1, PRKCZ, 105 more genes
    nsv4674646copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-3,349,513 , GRCh38.p12 chr1: 82,154-3,432,949 PRKCZ-AS1, PRKCZ, 156 more genes
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