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Items: 1 to 20 of 547

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5567208copy number variation1nstd207human GRCh38 chr1: 1,627,438-1,627,488 , GRCh37.p13 chr1: 1,562,818-1,562,868 MIB2
    nsv5208305copy number variation1nstd204human GRCh38.p13 chr1: 890,901-1,634,500 , GRCh37.p13 chr1: 826,281-1,569,876 , PLEKHN1, 62 more genes
    nsv5068382mobile element insertion1nstd203human GRCh38 chr1: 1,612,169-1,612,178 , GRCh37.p13 chr1: 1,547,549-1,547,558 MIB2
    nsv4905996copy number variation1nstd200human GRCh38 chr1: 1,605,225-1,613,623 , GRCh37.p13 chr1: 1,540,605-1,549,003 MIB2, LOC105378586
    nsv4889403copy number variation1nstd200human GRCh38 chr1: 1,625,658-1,631,550 , GRCh37.p13 chr1: 1,561,038-1,566,929 MMP23B, MIB2
    nsv4782591copy number variation1nstd200human GRCh37 chr1: 1,540,605-1,549,003 , GRCh38.p12 chr1: 1,605,225-1,613,623 MIB2, LOC105378586
    nsv4769317copy number variation1nstd102humanPathogenic GRCh37 chr1: 753,462-1,717,335 , GRCh38.p12 chr1: 818,082-1,785,896 MMP23B, DVL1, 76 more genes
    nsv4742866copy number variation1nstd199human GRCh37 chr1: 1,562,850-1,562,902 , GRCh38.p12 chr1: 1,627,470-1,627,522 MIB2
    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
    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
    nsv4674779copy number variation1nstd102humanUncertain significance GRCh37 chr1: 849,466-1,649,932 , GRCh38.p12 chr1: 914,086-1,718,493 LOC105378948, C1QTNF12, 65 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
    nsv4674611copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-4,829,059 , GRCh38.p12 chr1: 914,086-4,768,999 LOC100129534, MMP23B, 141 more genes
    nsv4674407copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-7,786,545 , GRCh38.p12 chr1: 914,086-7,726,485 MMP23B, RNF223, 183 more genes
    nsv4674384copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,466-5,625,566 , GRCh38.p12 chr1: 914,086-5,565,506 RN7SL574P, LOC112268219, 147 more genes
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