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Items: 1 to 20 of 39603

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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
    nsv6137770copy number variation1nstd102humanPathogenic GRCh37 chr17: 41,215,391-41,219,624 , GRCh38.p12 chr17: 43,063,374-43,067,607 BRCA1
    nsv6137746copy number variation1nstd102humanPathogenic GRCh37 chr17: 41,197,820-41,277,501 , GRCh38.p12 chr17: 43,045,803-43,125,484 NBR2, RPL21P4, 1 more genes
    nsv6137745copy number variation1nstd102humanPathogenic GRCh37 chr17: 41,197,820-41,277,287 , GRCh38.p12 chr17: 43,045,803-43,125,270 NBR2, RPL21P4, 1 more genes
    nsv6137741copy number variation1nstd102humanBenign GRCh38 chr13: 48,459,928-48,459,979 , GRCh37 chr13: 49,034,064-49,034,115 RB1
    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
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 PADI1, RPS15AP6, 176 more genes
    nsv6137717copy number variation1nstd102humanBenign GRCh38 chr11: 68,348,379-68,348,437 , GRCh37 chr11: 68,115,847-68,115,905 LRP5
    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
    nsv6137671copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 41,251,504-41,251,866 , GRCh38 chr17: 43,099,487-43,099,849 BRCA1
    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
    nsv6137657copy number variation1nstd102humanLikely pathogenic GRCh37 chr13: 32,921,034-32,968,825 , GRCh38.p12 chr13: 32,346,897-32,394,688 BRCA2, IFIT1P1
    nsv6131672insertion1nstd186human GRCh37 chr13: 102,596,194-102,596,229 , GRCh38.p12 chr13: 101,943,844-101,943,879 FGF14
    nsv6130414insertion1nstd186human GRCh37 chr19: 15,286,113-15,286,146 , GRCh38.p12 chr19: 15,175,302-15,175,335 NOTCH3
    nsv6130356insertion1nstd186human GRCh37 chr19: 40,734,606-40,734,638 , GRCh38.p12 chr19: 40,228,699-40,228,731 AKT2
    nsv6130243insertion1nstd186human GRCh37 chr12: 102,799,045-102,799,080 , GRCh38.p12 chr12: 102,405,267-102,405,302 IGF1, LINC02456
    nsv6130011insertion1nstd186human GRCh37 chr19: 15,284,547-15,284,555 , GRCh38.p12 chr19: 15,173,736-15,173,744 NOTCH3
    nsv6129984insertion1nstd186human GRCh37 chr14: 105,628,830-105,628,862 , GRCh38.p12 chr14: 105,162,493-105,162,525 JAG2
    nsv6129919insertion1nstd186human GRCh37 chr13: 49,034,021-49,034,021 , GRCh38.p12 chr13: 48,459,885-48,459,885 RB1
    nsv6129779mobile element insertion1nstd186human GRCh37 chr20: 46,218,683-46,218,734 , GRCh38.p12 chr20: 47,589,939-47,589,990 NCOA3
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