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Items: 1 to 20 of 52153

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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
    nsv6137778copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr11: 108,225,602-108,239,827 , GRCh38.p12 chr11: 108,354,875-108,369,100 ATM, C11orf65
    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
    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
    nsv6137716copy number variation1nstd102humanUncertain significance GRCh37 chr11: 108,114,846-108,239,827 , GRCh38.p12 chr11: 108,244,119-108,369,100 C11orf65, ATM
    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
    nsv6137701copy number variation1nstd102humanLikely pathogenic GRCh37 chr13: 28,669,064-31,367,407 , GRCh38.p12 chr13: 28,094,927-30,793,270 ALOX5AP, FLT1, 41 more genes
    nsv6137700copy number variation1nstd102humanPathogenic GRCh37 chr9: 36,088,563-39,092,820 , GRCh38.p12 chr9: 36,088,566-39,092,823 SNX18P3, VN1R48P, 69 more genes
    nsv6137675copy number variation1nstd102humanLikely benign GRCh37 chr17: 40,489,900-40,489,959 , GRCh38 chr17: 42,337,882-42,337,941 STAT3
    nsv6137671copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 41,251,504-41,251,866 , GRCh38 chr17: 43,099,487-43,099,849 BRCA1
    nsv6137663copy number variation1nstd102humannot provided GRCh38 chr2: 46,009,609-46,144,092 , GRCh37.p13 chr2: 46,236,748-46,371,231 PRKCE
    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
    nsv6131344insertion1nstd186human GRCh37 chr19: 10,293,797-10,293,801 , GRCh38.p12 chr19: 10,183,121-10,183,125 DNMT1
    nsv6131202insertion1nstd186human GRCh37 chr19: 54,402,184-54,402,187 , GRCh38.p12 chr19: 53,898,930-53,898,933 PRKCG
    nsv6131079mobile element insertion1nstd186human GRCh37 chr17: 64,637,294-64,637,345 , GRCh38.p12 chr17: 66,641,176-66,641,227 PRKCA
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv6130414insertion1nstd186human GRCh37 chr19: 15,286,113-15,286,146 , GRCh38.p12 chr19: 15,175,302-15,175,335 NOTCH3
    nsv6130011insertion1nstd186human GRCh37 chr19: 15,284,547-15,284,555 , GRCh38.p12 chr19: 15,173,736-15,173,744 NOTCH3
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