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Items: 1 to 20 of 22693

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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
    nsv6137736copy number variation1nstd102humanPathogenic GRCh37 chrX: 153,263,517-155,260,560 , GRCh38.p12 chrX: 153,998,066-156,030,895 H2AB3, GDI1, 83 more genes
    nsv6137735copy number variation1nstd102humanPathogenic GRCh37 chrX: 153,194,251-153,623,000 , GRCh38.p12 chrX: 153,928,798-154,394,658 EMD, MIR3202-1, 20 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
    nsv6137675copy number variation1nstd102humanLikely benign GRCh37 chr17: 40,489,900-40,489,959 , GRCh38 chr17: 42,337,882-42,337,941 STAT3
    nsv6129651insertion1nstd186human GRCh37 chr19: 6,816,558-6,816,598 , GRCh38.p12 chr19: 6,816,547-6,816,587 VAV1
    nsv6124828insertion1nstd186human GRCh37 chr8: 141,960,170-141,960,193 , GRCh38.p12 chr8: 140,950,071-140,950,094 PTK2
    nsv6121648copy number variation1nstd186human GRCh37 chr13: 110,418,234-110,419,067 , GRCh38.p12 chr13: 109,765,887-109,766,720 IRS2
    nsv6112812copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,675,050-30,200,008 , GRCh38.p12 chr16: 29,663,729-30,188,687 INO80E, QPRT, 33 more genes
    nsv6112806copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,675,050-30,218,221 , GRCh38.p12 chr16: 29,663,729-30,206,900 YPEL3-DT, PAGR1, 38 more genes
    nsv6112788copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,615,859-30,199,454 , GRCh38.p12 chr16: 29,604,538-30,188,133 ALDOA, MVP, 36 more genes
    nsv6112768copy number variation1nstd102humanPathogenic GRCh37 chr5: 34,984,696-46,405,042 , GRCh38.p12 chr5: 34,984,591-46,404,940 LIFR-AS1, FGF10-AS1, 137 more genes
    nsv6112763copy number variation1nstd102humanPathogenic GRCh37 chr12: 189,145-7,730,395 , GRCh38.p12 chr12: 79,979-7,577,799 GALNT8, LINC02371, 197 more genes
    nsv6112736copy number variation1nstd102humanPathogenic GRCh37 chr10: 48,301,535-51,807,296 , GRCh38.p12 chr10: 45,999,930-49,959,916 SHLD2P3, LOC100420617, 95 more genes
    nsv6112721copy number variation1nstd102humanPathogenic GRCh37 chrX: 47,179,068-54,424,785 , GRCh38.p12 chrX: 47,319,669-54,398,352 SNORA11E, SSX11P, 229 more genes
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 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
    nsv5980455copy number variation1nstd102humanPathogenic GRCh38 chrX: 153,884,414-154,363,935 , GRCh37.p13 chrX|NW_003871103.3: 1,318,396-1,797,914 , GRCh37.p13 chrX: 153,149,868-153,592,303 MIR3202-1, FLNA, 23 more genes
    nsv5980454copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,545,794-30,307,472 , GRCh38.p12 chr16: 29,534,473-30,296,151 LOC105371167, MIR3680-2, 46 more genes
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