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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4436066complex substitution1nstd102humanPathogenic GRCh38.p12 chr9: 78,228,782-78,244,763 , GRCh37 chr9: 80,843,698-80,859,679 CEP78
    nsv7098779complex substitution1nstd102humanPathogenic GRCh37 chr17: 41,213,079-41,215,742 , GRCh38.p12 chr17: 43,061,062-43,063,725 BRCA1
    nsv4436290complex substitution1nstd102humanPathogenic GRCh37 chr5: 112,154,359-112,155,228 , GRCh38.p12 chr5: 112,818,662-112,819,531 APC
    nsv4769399complex substitution1nstd102humanLikely pathogenic GRCh37 chrX: 29,619,835-29,843,303 , GRCh38.p12 chrX: 29,601,718-29,825,186 IL1RAPL1
    nsv4458038complex substitution1nstd102humanLikely pathogenic GRCh37 chrX: 154,156,796-154,227,925 , GRCh38.p12 chrX: 154,928,521-154,999,650 F8
    nsv6312160complex substitution1nstd102humanLikely pathogenic GRCh37 chr5: 78,241,273-78,248,429 , GRCh38.p12 chr5: 78,945,450-78,952,606 ARSB
    nsv6311531complex substitution1nstd102humanLikely pathogenic GRCh37 chr3: 33,100,045-33,100,046 , GRCh38.p12 chr3: 33,058,553-33,058,554 GLB1
    nsv6137658complex substitution1nstd102humanUncertain significance GRCh38 chr16: 88,825,006-88,836,241 , GRCh37.p13 chr16: 88,891,414-88,902,649 GALNS
    nsv4436028complex substitution1nstd102humanUncertain significance GRCh38.p12 chr2: 130,191,980-130,195,152 , GRCh37 chr2: 130,949,553-130,952,725 TUBA3E
    nsv4578249complex substitution1nstd102humandrug response GRCh37 chr5: 149,502,629-149,505,080 , GRCh38.p12 chr5: 150,123,066-150,125,517 PDGFRB
    nsv4436609complex substitution1nstd102humanUncertain significance GRCh38.p12 chr6: 29,942,825-29,944,520 , GRCh37 chr6: 29,910,602-29,912,297 HLA-A
    nsv4436389complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 248,361,844-248,362,355 , GRCh37 chr1: 248,525,146-248,525,657 , GRCh38.p12 chr1|NT_187646.1: 9,818-10,329 , GRCh38.p12 chr1|NT_187518.1: 9,818-10,329 OR2T4
    nsv4435959complex substitution1nstd102humanUncertain significance GRCh38.p12 chr4: 87,616,116-87,616,268 , GRCh37 chr4: 88,537,268-88,537,420 DSPP
    nsv4436505complex substitution1nstd102humanUncertain significance GRCh38.p12 chr4: 87,616,124-87,616,253 , GRCh37 chr4: 88,537,276-88,537,405 DSPP
    nsv4436207complex substitution1nstd102humanUncertain significance GRCh37 chr3: 75,786,278-75,790,822 , GRCh38.p12 chr3: 75,737,127-75,741,671 ZNF717, MIR4273
    nsv5564262complex substitution1nstd102humanPathogenic GRCh37.p13 chr4: 95,096,941-95,175,379 , GRCh38 chr4: 94,175,790-94,254,228 SMARCAD1, HMGB3P15, 1 more genes
    nsv4436266complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 228,165,950-228,360,200 , GRCh37 chr1: 228,353,651-228,547,901 OBSCN, IBA57, 3 more genes
    nsv4436231complex substitution1nstd102humanUncertain significance GRCh37 chr20: 61,880,169-61,908,597 , GRCh38.p12 chr20: 63,248,817-63,277,245 ARFGAP1, NKAIN4, 1 more genes
    nsv4436556complex substitution1nstd102humanUncertain significance GRCh38.p12 chr6: 32,641,320-32,662,032 , GRCh37 chr6: 32,609,097-32,629,809 HLA-DQA1, HLA-DQB1, 1 more genes
    nsv4436629complex substitution1nstd102humanUncertain significance GRCh38.p12 chr9: 21,187,122-21,207,038 , GRCh37 chr9: 21,187,121-21,207,037 IFNA4, IFNA7, 2 more genes
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