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Items: 1 to 20 of 62704

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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 RAB10, MYADML, 326 more genes
    nsv6137778copy number variation1nstd102humanPathogenic GRCh37 chr11: 108,225,602-108,239,827 , GRCh38.p12 chr11: 108,354,875-108,369,100 C11orf65, ATM
    nsv6137752copy number variation1nstd102humanPathogenic GRCh38 chr22: 28,696,850-28,699,986 , GRCh37 chr22: 29,092,838-29,095,974 CHEK2
    nsv6137741copy number variation1nstd102humanBenign GRCh38 chr13: 48,459,928-48,459,979 , GRCh37 chr13: 49,034,064-49,034,115 RB1
    nsv6137736copy number variation1nstd102humanPathogenic GRCh37 chrX: 153,263,517-155,260,560 , GRCh38.p12 chrX: 153,998,066-156,030,895 HMGN1P37, MIR664B, 83 more genes
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 RPS15AP6, PLA2G2D, 177 more genes
    nsv6137716copy number variation1nstd102humanUncertain significance GRCh37 chr11: 108,114,846-108,239,827 , GRCh38.p12 chr11: 108,244,119-108,369,100 ATM, C11orf65
    nsv6137713insertion1nstd102humanUncertain significance GRCh37 chr18: 48,581,368-48,581,368 , GRCh38 chr18: 51,054,998-51,054,998 SMAD4
    nsv6137702copy number variation1nstd102humanPathogenic GRCh37 chr9: 35,059,633-37,660,586 , GRCh38.p12 chr9: 35,059,636-37,660,589 LOC102724322, ZBTB5, 84 more genes
    nsv6137662copy number variation1nstd102humanLikely pathogenic GRCh37 chr5: 112,103,088-112,128,142 , GRCh38.p12 chr5: 112,767,391-112,792,445 APC, CBX3P3, 1 more genes
    nsv6131704insertion1nstd186human GRCh37 chr18: 77,224,671-77,224,680 , GRCh38.p12 chr18: 79,464,671-79,464,680 LOC101927897, NFATC1
    nsv6131597insertion1nstd186human GRCh37 chr19: 50,894,375-50,894,375 , GRCh38.p12 chr19: 50,391,118-50,391,118 POLD1
    nsv6131470insertion1nstd186human GRCh37 chr19: 41,849,848-41,849,872 , GRCh38.p12 chr19: 41,343,943-41,343,967 TGFB1
    nsv6131450mobile element insertion1nstd186human GRCh37 chr6: 33,030,310-33,030,361 , GRCh38.p12 chr6: 33,062,533-33,062,584 HLA-DPA1
    nsv6131420insertion1nstd186human GRCh37 chr15: 91,112,780-91,112,780 , GRCh38.p12 chr15: 90,569,548-90,569,548 CRTC3
    nsv6131290mobile element insertion1nstd186human GRCh37 chr3: 20,090,533-20,090,584 , GRCh38.p12 chr3: 20,049,041-20,049,092 KAT2B
    nsv6131228insertion1nstd186human GRCh37 chr22: 29,196,581-29,196,613 , GRCh38.p12 chr22: 28,800,593-28,800,625 XBP1, ZNRF3
    nsv6131225insertion1nstd186human GRCh37 chr17: 61,731,675-61,731,675 , GRCh38.p12 chr17: 63,654,315-63,654,315 MAP3K3
    nsv6131193insertion1nstd186human GRCh37 chr18: 77,160,842-77,160,883 , GRCh38.p12 chr18: 79,400,842-79,400,883 NFATC1
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