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Items: 1 to 20 of 632

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5881509copy number variation1nstd209human GRCh38 chr1: 1,264,791-1,546,719 , GRCh37.p13 chr1: 1,200,171-1,482,099 , MRPL20-AS1, 30 more genes
    nsv5879305copy number variation1nstd209human GRCh38 chr1: 1,432,499-1,433,491 , GRCh37.p13 chr1: 1,367,879-1,368,871 LINC01770, LOC107985729
    nsv5828297copy number variation1nstd209human GRCh38 chr1: 1,434,014-1,443,128 , GRCh37.p13 chr1: 1,369,394-1,378,508 LINC01770, VWA1, 1 more genes
    nsv5827981copy number variation1nstd209human GRCh38 chr1: 1,429,540-1,436,231 , GRCh37.p13 chr1: 1,364,920-1,371,611 VWA1, LOC107985729, 1 more genes
    nsv5559597sequence alteration1nstd206human GRCh38 chr1: 1,432,501-1,433,113 , GRCh37.p13 chr1: 1,367,881-1,368,493 LINC01770, LOC107985729
    nsv5430364copy number variation1nstd206human GRCh38 chr1: 1,434,045-1,434,375 , GRCh37.p13 chr1: 1,369,425-1,369,755 VWA1, LINC01770, 1 more genes
    nsv5423279copy number variation1nstd206human GRCh38 chr1: 1,428,322-1,428,477 , GRCh37.p13 chr1: 1,363,702-1,363,857 LINC01770
    nsv5421545copy number variation1nstd206human GRCh38 chr1: 1,433,073-1,433,742 , GRCh37.p13 chr1: 1,368,453-1,369,122 LOC107985729, LINC01770, 1 more genes
    nsv5416896copy number variation1nstd206human GRCh38 chr1: 1,426,599-1,428,215 , GRCh37.p13 chr1: 1,361,979-1,363,595 TMEM88B, LINC01770
    nsv5415329copy number variation1nstd206human GRCh38 chr1: 1,432,459-1,433,532 , GRCh37.p13 chr1: 1,367,839-1,368,912 LINC01770, LOC107985729
    nsv5213342copy number variation1nstd204human GRCh38.p13 chr1: 1,351,401-1,466,800 , GRCh37.p13 chr1: 1,286,781-1,402,180 , LINC01770, 13 more genes
    nsv5208305copy number variation1nstd204human GRCh38.p13 chr1: 890,901-1,634,500 , GRCh37.p13 chr1: 826,281-1,569,876 , PLEKHN1, 62 more genes
    nsv4782562copy number variation1nstd200human GRCh37 chr1: 1,364,417-1,364,560 , GRCh38.p12 chr1: 1,429,037-1,429,180 LINC01770
    nsv4769317copy number variation1nstd102humanPathogenic GRCh37 chr1: 753,462-1,717,335 , GRCh38.p12 chr1: 818,082-1,785,896 MMP23B, DVL1, 76 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
    nsv4728279copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 849,466-1,806,659 , GRCh38.p12 chr1: 914,086-1,875,220 CDK11B, DVL1, 70 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
    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
    nsv4683585copy number variation1nstd102humanPathogenic GRCh37 chr1: 955,543-2,238,214 , GRCh38.p12 chr1: 1,020,163-2,306,775 CPTP, PRKCZ, 74 more genes
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