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Items: 1 to 20 of 39763

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137815delins1nstd102humanLikely pathogenic GRCh38 chr12: 21,580,459-21,580,531 , GRCh37 chr12: 21,733,393-21,733,465 GYS2
    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
    nsv6137757copy number variation1nstd102humanPathogenic GRCh38 chr7: 117,602,152-117,612,040 , GRCh37 chr7: 117,242,206-117,252,094 CFTR
    nsv6137708copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 42,981,187-42,987,120 , GRCh38.p12 chr20: 44,352,547-44,358,480 HNF4A, R3HDML-AS1
    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
    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
    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
    nsv6131369insertion1nstd186human GRCh37 chr14: 102,316,011-102,316,011 , GRCh38.p12 chr14: 101,849,674-101,849,674 PPP2R5C
    nsv6130780insertion1nstd186human GRCh37 chr13: 50,015,380-50,015,415 , GRCh38.p12 chr13: 49,441,244-49,441,279 CAB39L
    nsv6130734insertion1nstd186human GRCh37 chr12: 109,647,778-109,647,781 , GRCh38.p12 chr12: 109,209,973-109,209,976 ACACB
    nsv6130409insertion1nstd186human GRCh37 chr12: 132,401,820-132,401,872 , GRCh38.p12 chr12: 131,917,275-131,917,327 ULK1
    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
    nsv6130058insertion1nstd186human GRCh37 chr19: 7,153,378-7,153,378 , GRCh38.p12 chr19: 7,153,367-7,153,367 INSR
    nsv6129890insertion1nstd186human GRCh37 chr17: 17,719,514-17,719,554 , GRCh38.p12 chr17: 17,816,200-17,816,240 SREBF1
    nsv6129236insertion1nstd186human GRCh37 chr17: 78,660,160-78,660,160 , GRCh38.p12 chr17: 80,686,360-80,686,360 RPTOR
    nsv6129227insertion1nstd186human GRCh37 chr13: 49,979,886-49,979,901 , GRCh38.p12 chr13: 49,405,750-49,405,765 CAB39L
    nsv6129169insertion1nstd186human GRCh37 chr12: 132,401,835-132,401,857 , GRCh38.p12 chr12: 131,917,290-131,917,312 ULK1
    nsv6128687copy number variation1nstd186human GRCh37 chr17: 78,694,569-78,698,499 , GRCh38.p12 chr17: 80,720,769-80,724,699 , RPTOR
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