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Items: 1 to 20 of 292

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
    nsv5880119copy number variation1nstd209human GRCh38 chr2: 37,269,216-37,269,319 , GRCh37.p13 chr2: 37,496,359-37,496,462 PRKD3, NDUFAF7
    nsv5877253copy number variation1nstd209human GRCh38 chr2: 37,280,194-37,280,328 , GRCh37.p13 chr2: 37,507,337-37,507,471 PRKD3
    nsv5870104copy number variation1nstd209human GRCh38 chr2: 37,261,368-37,261,660 , GRCh37.p13 chr2: 37,488,511-37,488,803 NDUFAF7, PRKD3
    nsv5675303mobile element insertion1nstd211human GRCh38 chr2: 37,267,157-37,267,157 , GRCh37.p13 chr2: 37,494,300-37,494,300 NDUFAF7, PRKD3
    nsv5574369copy number variation1nstd207human GRCh38 chr2: 37,249,576-37,249,642 , GRCh37.p13 chr2: 37,476,719-37,476,785 PRKD3, NDUFAF7
    nsv5452644copy number variation1nstd206human GRCh38 chr2: 37,259,205-37,259,295 , GRCh37.p13 chr2: 37,486,348-37,486,438 PRKD3, NDUFAF7
    nsv5446488copy number variation1nstd206human GRCh38 chr2: 37,280,200-37,280,329 , GRCh37.p13 chr2: 37,507,343-37,507,472 PRKD3
    nsv5445711copy number variation1nstd206human GRCh38 chr2: 37,269,216-37,269,324 , GRCh37.p13 chr2: 37,496,359-37,496,467 PRKD3, NDUFAF7
    nsv5403251mobile element insertion1nstd206human GRCh38 chr2: 37,267,157-37,267,171 , GRCh37.p13 chr2: 37,494,300-37,494,314 PRKD3, NDUFAF7
    nsv5375216translocation1nstd200human GRCh38 chr13: 93,567,167-93,567,167 , GRCh38 chr2: 37,252,883-37,252,883 , GRCh37.p13 chr13: 94,219,420-94,219,420 , GRCh37.p13 chr2: 37,480,026-37,480,026 GPC6, PRKD3, 1 more genes
    nsv5359143translocation1nstd200human GRCh38 chr2: 37,287,290-37,287,290 , GRCh38 chr2: 37,287,202-37,287,202 , GRCh37.p13 chr2: 37,514,345-37,514,345 , GRCh37.p13 chr2: 37,514,433-37,514,433 PRKD3
    nsv5296215copy number variation1nstd204human GRCh38.p13 chr2: 37,087,219-37,302,265 , GRCh37.p13 chr2: 37,314,362-37,529,408 EIF2AK2, CEBPZ, 7 more genes
    nsv5206705copy number variation1nstd204human GRCh38.p13 chr2: 37,252,396-37,283,444 , GRCh37.p13 chr2: 37,479,539-37,510,587 PRKD3, NDUFAF7
    nsv5206320copy number variation1nstd204human GRCh37.p13 chr2: 37,314,444-37,529,243 , GRCh38.p13 chr2: 37,087,301-37,302,100 EIF2AK2, CEBPZ, 7 more genes
    nsv5069799mobile element insertion1nstd203human GRCh38 chr2: 37,284,337-37,284,349 , GRCh37.p13 chr2: 37,511,480-37,511,492 PRKD3
    nsv5064510mobile element insertion1nstd203human GRCh38 chr2: 37,278,782-37,278,788 , GRCh37.p13 chr2: 37,505,925-37,505,931 PRKD3
    nsv4901215copy number variation1nstd200human GRCh38 chr2: 37,280,200-37,280,329 , GRCh37.p13 chr2: 37,507,343-37,507,472 PRKD3
    nsv4776164copy number variation1nstd200human GRCh37 chr2: 37,495,639-37,496,377 , GRCh38.p12 chr2: 37,268,496-37,269,234 NDUFAF7, PRKD3
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