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Items: 1 to 20 of 52544

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137808copy number variation1nstd102humanLikely pathogenic GRCh38.p12 chr19: 49,568,107-49,662,685 , GRCh37 chr19: 50,071,364-50,165,942 IRF3, PRRG2, 4 more genes
    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
    nsv6137727copy number variation2nstd102humanUncertain significance GRCh38 chr3: 12,589,035-12,766,981 , GRCh37.p13 chr3: 12,630,534-12,808,480 RAF1, CRIP1P1, 1 more genes
    nsv6137707copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,565,626-30,221,925 , GRCh38.p12 chr16: 29,554,305-30,210,604 TAOK2, SLC7A5P1, 44 more genes
    nsv6131680insertion1nstd186human GRCh37 chr16: 2,102,234-2,102,266 , GRCh38.p12 chr16: 2,052,233-2,052,265 TSC2
    nsv6131433insertion1nstd186human GRCh37 chr19: 7,131,019-7,131,019 , GRCh38.p12 chr19: 7,131,008-7,131,008 INSR
    nsv6131079mobile element insertion1nstd186human GRCh37 chr17: 64,637,294-64,637,345 , GRCh38.p12 chr17: 66,641,176-66,641,227 PRKCA
    nsv6130356insertion1nstd186human GRCh37 chr19: 40,734,606-40,734,638 , GRCh38.p12 chr19: 40,228,699-40,228,731 AKT2
    nsv6130287mobile element insertion1nstd186human GRCh37 chr13: 42,771,403-42,771,447 , GRCh38.p12 chr13: 42,197,267-42,197,311 DGKH
    nsv6130058insertion1nstd186human GRCh37 chr19: 7,153,378-7,153,378 , GRCh38.p12 chr19: 7,153,367-7,153,367 INSR
    nsv6129462insertion1nstd186human GRCh37 chr14: 24,794,428-24,794,428 , GRCh38.p12 chr14: 24,325,222-24,325,222 , GRCh38.p12 chr14|NW_018654722.1: 626,200-626,200 ADCY4
    nsv6128417copy number variation1nstd186human GRCh37 chr19: 422,845-423,587 , GRCh38.p12 chr19: 422,845-423,587 SHC2
    nsv6128116insertion1nstd186human GRCh37 chr7: 14,674,925-14,674,925 , GRCh38.p12 chr7: 14,635,300-14,635,300 DGKB
    nsv6127761copy number variation1nstd186human GRCh37 chr19: 10,839,743-10,839,861 , GRCh38.p12 chr19: 10,729,067-10,729,185 DNM2
    nsv6127401copy number variation1nstd186human GRCh37 chr17: 8,713,633-8,715,450 , GRCh38.p12 chr17: 8,810,315-8,812,132 PIK3R6
    nsv6126662copy number variation1nstd186human GRCh37 chr19: 434,133-434,700 , GRCh38.p12 chr19: 434,133-434,700 SHC2
    nsv6126599insertion1nstd186human GRCh37 chr3: 7,145,541-7,145,541 , GRCh38.p12 chr3: 7,103,854-7,103,854 GRM7
    nsv6126556copy number variation1nstd186human GRCh37 chr17: 64,332,752-64,332,805 , GRCh38.p12 chr17: 66,336,634-66,336,687 PRKCA
    nsv6125996copy number variation1nstd186human GRCh37 chr19: 7,246,919-7,247,037 , GRCh38.p12 chr19: 7,246,908-7,247,026 INSR
    nsv6124825insertion1nstd186human GRCh37 chr5: 7,704,113-7,704,113 , GRCh38.p12 chr5: 7,704,000-7,704,000 ADCY2
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