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Items: 1 to 20 of 70064

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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
    nsv6137784copy number variation1nstd102humanUncertain significance GRCh37 chr19: 11,221,454-11,221,454 , GRCh38 chr19: 11,105,168-11,105,169 LDLR
    nsv6137743copy number variation1nstd102humanBenign GRCh37 chr16: 89,715,541-89,715,605 , GRCh38 chr16: 89,649,133-89,649,197 CHMP1A
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 PADI1, RPS15AP6, 176 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
    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
    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
    nsv6131470insertion1nstd186human GRCh37 chr19: 41,849,848-41,849,872 , GRCh38.p12 chr19: 41,343,943-41,343,967 TGFB1
    nsv6131103insertion1nstd186human GRCh37 chr15: 65,282,232-65,282,254 , GRCh38.p12 chr15: 64,989,894-64,989,916 SPG21
    nsv6130961insertion1nstd186human GRCh37 chr16: 542,441-542,490 , GRCh38.p12 chr16: 492,441-492,490 , GRCh38.p12 chr16|NT_187610.1: 94,503-94,558 LOC107987417, RAB11FIP3
    nsv6130861mobile element insertion1nstd186human GRCh37 chr22: 19,210,913-19,210,964 , GRCh38.p12 chr22: 19,223,390-19,223,441 CLTCL1
    nsv6130794insertion1nstd186human GRCh37 chr22: 19,178,131-19,178,162 , GRCh38.p12 chr22: 19,190,619-19,190,652 CLTCL1
    nsv6130620insertion1nstd186human GRCh37 chr18: 9,716,930-9,716,981 , GRCh38.p12 chr18: 9,716,933-9,716,984 RAB31
    nsv6130518insertion1nstd186human GRCh37 chr17: 5,212,596-5,212,646 , GRCh38.p12 chr17: 5,309,301-5,309,351 RABEP1
    nsv6130505insertion1nstd186human GRCh37 chr13: 36,934,411-36,934,417 , GRCh38.p12 chr13: 36,360,274-36,360,280 SPART-AS1, SPART
    nsv6130307insertion1nstd186human GRCh37 chr15: 56,247,217-56,247,224 , GRCh38.p12 chr15: 55,955,019-55,955,026 NEDD4
    nsv6129839insertion1nstd186human GRCh37 chr12: 93,331,232-93,331,271 , GRCh38.p12 chr12: 92,937,456-92,937,495 EEA1
    nsv6129435insertion1nstd186human GRCh37 chr17: 79,650,667-79,650,704 , GRCh38.p12 chr17: 81,683,637-81,683,674 HGS, ARL16
    nsv6129336insertion1nstd186human GRCh37 chr20: 17,943,264-17,943,294 , GRCh38.p12 chr20: 17,962,621-17,962,651 SNX5, SNORD17
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