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Items: 1 to 20 of 29

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6313471copy number variation1nstd102humanPathogenic GRCh37 chrX: 8,501,036-8,591,731 , GRCh38.p12 chrX: 8,532,995-8,623,690 ANOS1
    nsv4349618copy number variation1nstd102humanPathogenic GRCh37 chr7: 83,664,877-83,740,076 , GRCh38.p12 chr7: 84,035,561-84,110,760 SEMA3A
    nsv5381728copy number variation1nstd102humanPathogenic GRCh38 chr8: 38,463,237-38,470,747 , GRCh37 chr8: 38,320,755-38,328,265 FGFR1
    nsv7095588copy number variation1nstd102humanPathogenic GRCh37 chr1: 220,330,592-220,335,630 , GRCh38.p12 chr1: 220,157,250-220,162,288 RAB3GAP2
    nsv6315226copy number variation1nstd102humanPathogenic GRCh38 chrX: 8,531,912-8,535,179 , GRCh37 chrX: 8,499,953-8,503,220 ANOS1
    nsv4348515copy number variation1nstd102humanPathogenic GRCh37 chrX: 154,305,031-154,307,464 , GRCh38.p12 chrX: 155,076,756-155,079,189 BRCC3
    nsv7093329copy number variation1nstd102humanPathogenic GRCh38 chr10: 78,020,679-78,023,049 , GRCh37 chr10: 79,780,437-79,782,807 POLR3A
    nsv6634304copy number variation1nstd102humanPathogenic GRCh37 chr19: 920,277-920,431 , GRCh38 chr19: 920,277-920,431 KISS1R
    nsv7098174copy number variation1nstd102humanPathogenic GRCh37 chr8: 38,314,854-38,314,964 , GRCh38.p12 chr8: 38,457,336-38,457,446 FGFR1
    nsv4675955copy number variation1nstd102humanPathogenic GRCh37 chr7: 5,692,044-5,692,141 , GRCh38.p12 chr7: 5,652,413-5,652,510 RNF216
    nsv997104copy number variation1nstd45humanPathogenic GRCh37 chrX: 8,496,915-8,700,228 , GRCh38.p12 chrX: 8,528,874-8,732,187 ANOS1
    nsv7098552copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chrX: 8,501,036-8,700,077 , GRCh38.p12 chrX: 8,532,995-8,732,036 ANOS1
    nsv7136999copy number variation1nstd102humanLikely pathogenic GRCh37 chr8: 61,769,448-61,774,754 , GRCh38.p12 chr8: 60,856,889-60,862,195 CHD7
    nsv4681395copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 8,521,973-8,565,317 , GRCh38.p12 chrX: 8,553,932-8,597,276 ANOS1
    nsv6315198copy number variation1nstd102humanUncertain significance GRCh38 chr12: 106,451,410-106,456,585 , GRCh37 chr12: 106,845,188-106,850,363 POLR3B
    nsv4450766copy number variation1nstd102humanUncertain significance GRCh38 chrX: 8,587,774-8,732,056 , GRCh37 chrX: 8,555,815-8,700,097 ANOS1
    nsv3924671copy number variation1nstd102humanUncertain significance GRCh37 chrX: 8,601,505-8,703,029 , GRCh38.p12 chrX: 8,633,464-8,734,988 ANOS1
    nsv3886857copy number variation1nstd102humanUncertain significance GRCh38 chrX: 8,699,678-8,732,056 , GRCh37 chrX: 8,667,719-8,700,097 ANOS1
    nsv7136970copy number variation1nstd102humanUncertain significance GRCh38 chr2: 128,262,169-128,275,055 , GRCh37.p13 chr2: 129,019,743-129,032,629 HS6ST1
    nsv6314764delins1nstd102humanUncertain significance GRCh38 chr8: 60,867,891-60,867,903 , GRCh37.p13 chr8: 61,780,450-61,780,462 CHD7
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