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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
    nsv6137769copy number variation1nstd102humanBenign GRCh37 chr16: 30,760,362-30,760,412 , GRCh38 chr16: 30,749,041-30,749,091 PHKG2
    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
    nsv6131132insertion1nstd186human GRCh37 chr14: 91,973,998-91,974,035 , GRCh38.p12 chr14: 91,507,654-91,507,691 PPP4R3A
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv6130734insertion1nstd186human GRCh37 chr12: 109,647,778-109,647,781 , GRCh38.p12 chr12: 109,209,973-109,209,976 ACACB
    nsv6130356insertion1nstd186human GRCh37 chr19: 40,734,606-40,734,638 , GRCh38.p12 chr19: 40,228,699-40,228,731 AKT2
    nsv6125378insertion1nstd186human GRCh37 chr12: 26,650,425-26,650,472 , GRCh38.p12 chr12: 26,497,492-26,497,539 ITPR2
    nsv6124847copy number variation1nstd186human GRCh37 chr21: 45,725,942-45,725,996 , GRCh38.p12 chr21: 44,306,059-44,306,113 PFKL
    nsv6124825insertion1nstd186human GRCh37 chr5: 7,704,113-7,704,113 , GRCh38.p12 chr5: 7,704,000-7,704,000 ADCY2
    nsv6123171copy number variation1nstd186human GRCh37 chr14: 91,959,492-91,959,865 , GRCh38.p12 chr14: 91,493,148-91,493,521 PPP4R3A
    nsv6122423copy number variation1nstd186human GRCh37 chr14: 91,959,227-91,960,376 , GRCh38.p12 chr14: 91,492,883-91,494,032 PPP4R3A
    nsv6117042mobile element insertion1nstd186human GRCh37 chr20: 8,816,491-8,816,491 , GRCh38.p12 chr20: 8,835,844-8,835,844 PLCB1
    nsv6116909mobile element insertion1nstd186human GRCh37 chr20: 8,521,304-8,521,355 , GRCh38.p12 chr20: 8,540,657-8,540,708 PLCB1
    nsv6116599copy number variation1nstd186human GRCh37 chr1: 1,836,994-1,843,669 , GRCh38.p12 chr1: 1,905,555-1,912,230 CALML6
    nsv6114977mobile element insertion1nstd186human GRCh37 chr20: 8,435,668-8,435,668 , GRCh38.p12 chr20: 8,455,021-8,455,021 PLCB1
    nsv6114628mobile element insertion1nstd186human GRCh37 chr17: 35,492,978-35,492,978 , GRCh38.p12 chr17: 37,136,053-37,136,053 , GRCh38.p12 chr17|NT_187614.1: 1,372,043-1,372,043 ACACA
    nsv6114170mobile element insertion1nstd186human GRCh37 chr22: 46,623,035-46,623,035 , GRCh38.p12 chr22: 46,227,138-46,227,138 PPARA
    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
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