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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7093555insertion1nstd102humanPathogenic GRCh37 chr1: 45,974,514-45,974,514 , GRCh38 chr1: 45,508,842-45,508,842 MMACHC
    nsv6310966copy number variation1nstd102humanPathogenic GRCh37 chr1: 45,974,458-45,974,897 , GRCh38.p12 chr1: 45,508,786-45,509,225 MMACHC, PRDX1
    nsv6310965copy number variation1nstd102humanPathogenic GRCh37 chr1: 45,965,995-45,966,095 , GRCh38.p12 chr1: 45,500,323-45,500,423 MMACHC, CCDC163
    nsv6634490copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 74,764,773-74,769,768 , GRCh38.p12 chr14: 74,298,070-74,303,065 ABCD4, VRTN
    nsv4681710copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,973,008-45,974,907 , GRCh38.p12 chr1: 45,507,336-45,509,235 PRDX1, MMACHC
    nsv6112672copy number variation1nstd102humanPathogenic GRCh37 chr1: 45,965,972-45,979,054 , GRCh38.p12 chr1: 45,500,300-45,513,382 CCDC163, PRDX1, 1 more genes
    nsv4681807copy number variation1nstd102humanPathogenic GRCh37 chr1: 45,965,995-45,974,897 , GRCh38.p12 chr1: 45,500,323-45,509,225 MMACHC, PRDX1, 1 more genes
    nsv3900709copy number variation1nstd102humanBenign GRCh37 chr19: 45,302,390-45,354,044 , GRCh38.p12 chr19: 44,799,133-44,850,787 CBLC, NECTIN2, 1 more genes
    nsv7095532copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,966,005-45,984,715 , GRCh38.p12 chr1: 45,500,333-45,519,043 PRDX1, MMACHC, 1 more genes
    nsv7096051copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,966,005-45,977,106 , GRCh38.p12 chr1: 45,500,333-45,511,434 MMACHC, PRDX1, 1 more genes
    nsv3891669copy number variation1nstd102humanPathogenic GRCh37 chr19: 43,013,365-47,241,534 , GRCh38.p12 chr19: 42,509,213-46,738,277 CBLC, MIR320E, 189 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 MARK1, LINC02766, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 SNAP47, STK40, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 RNU1-153P, MIR3917, 4887 more genes
    nsv3904885copy number variation1nstd102humanPathogenic GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923 CBLC, ZNF321P, 2443 more genes
    nsv3903203copy number variation1nstd102humanPathogenic GRCh37 chr19: 260,912-59,097,160 , GRCh38.p12 chr19: 260,912-58,585,793 CBLC, BABAM1, 2426 more genes
    nsv3903092copy number variation2nstd102humanPathogenic GRCh37 chr19: 260,912-58,956,888 , GRCh38.p12 chr19: 260,912-58,445,521 CBLC, LENG8, 2408 more genes
    nsv4457372copy number variation1nstd102humanPathogenic GRCh37 chr19: 28,271,106-49,213,832 , GRCh38.p12 chr19: 27,780,198-48,710,575 CBLC, ZNF461, 735 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv4676357copy number variation1nstd102humanPathogenic GRCh37 chr19: 44,738,088-53,621,561 , GRCh38.p12 chr19: 44,233,935-53,118,308 CBLC, MIR4324, 485 more genes
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