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Items: 1 to 20 of 93484

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137798copy number variation1nstd102humanPathogenic GRCh38 chrX: 154,193,470-154,193,611 , GRCh37 chrX: 153,458,961-153,459,102 OPN1MW
    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
    nsv6137717copy number variation1nstd102humanBenign GRCh38 chr11: 68,348,379-68,348,437 , GRCh37 chr11: 68,115,847-68,115,905 LRP5
    nsv6137713insertion1nstd102humanUncertain significance GRCh37 chr18: 48,581,368-48,581,368 , GRCh38 chr18: 51,054,998-51,054,998 SMAD4
    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
    nsv6137702copy number variation1nstd102humanPathogenic GRCh37 chr9: 35,059,633-37,660,586 , GRCh38.p12 chr9: 35,059,636-37,660,589 ARHGEF39, LOC105376026, 84 more genes
    nsv6137686copy number variation1nstd102humanUncertain significance GRCh37 chr17: 29,687,722-29,704,696 , GRCh38.p12 chr17: 31,360,704-31,377,678 NF1
    nsv6137675copy number variation1nstd102humanLikely benign GRCh37 chr17: 40,489,900-40,489,959 , GRCh38 chr17: 42,337,882-42,337,941 STAT3
    nsv6137672copy number variation1nstd102humannot provided GRCh38 chr2: 124,348,648-129,410,245 , GRCh37.p13 chr2: 125,106,225-130,167,818 LOC105373603, MYO7B, 59 more genes
    nsv6137666copy number variation1nstd102humanPathogenic GRCh37 chrX: 91,829,757-113,050,225 , GRCh38.p12 chrX: 92,574,758-113,806,943 TCEAL8, MTND5P26, 272 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
    nsv6131680insertion1nstd186human GRCh37 chr16: 2,102,234-2,102,266 , GRCh38.p12 chr16: 2,052,233-2,052,265 TSC2
    nsv6131489insertion1nstd186human GRCh37 chr12: 124,818,574-124,818,586 , GRCh38.p12 chr12: 124,334,028-124,334,040 NCOR2
    nsv6131471insertion1nstd186human GRCh37 chr13: 45,799,552-45,799,603 , GRCh38.p12 chr13: 45,225,417-45,225,468 GTF2F2, LOC105370190
    nsv6131470insertion1nstd186human GRCh37 chr19: 41,849,848-41,849,872 , GRCh38.p12 chr19: 41,343,943-41,343,967 TGFB1
    nsv6131369insertion1nstd186human GRCh37 chr14: 102,316,011-102,316,011 , GRCh38.p12 chr14: 101,849,674-101,849,674 PPP2R5C
    nsv6131233insertion1nstd186human GRCh37 chr22: 50,682,015-50,682,061 , GRCh38.p12 chr22: 50,243,586-50,243,632 TUBGCP6, HDAC10
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