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Items: 1 to 20 of 38496

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4681940copy number variation1nstd102humanPathogenic GRCh37 chr6: 64,776,231-65,336,138 , GRCh38.p12 chr6: 64,066,338-64,626,245 EYS
    nsv3877736copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,533,207-31,983,162 , GRCh38.p12 chrX: 31,515,090-31,965,045 DMD
    nsv4769354copy number variation1nstd102humanPathogenic GRCh37 chrX: 534,390-935,361 , GRCh38.p12 chrX: 573,655-974,626 SHOX
    nsv5673683copy number variation1nstd102humanPathogenic GRCh37 chr6: 64,940,485-65,336,138 , GRCh38.p12 chr6: 64,230,592-64,626,245 EYS
    nsv6308996copy number variation1nstd102humanPathogenic GRCh37 chr10: 55,755,399-56,138,712 , GRCh38.p12 chr10: 53,995,639-54,378,952 PCDH15
    nsv6309068copy number variation1nstd102humanPathogenic GRCh37 chr10: 55,616,925-55,996,701 , GRCh38.p12 chr10: 53,857,165-54,236,941 PCDH15
    nsv6137764copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,645,780-31,986,641 , GRCh38.p12 chrX: 31,627,663-31,968,524 DMD
    nsv7097583copy number variation1nstd102humanPathogenic GRCh37 chr6: 66,094,259-66,417,118 , GRCh38.p12 chr6: 65,384,366-65,707,225 EYS
    nsv3893146copy number variation1nstd102humanPathogenic GRCh37 chr7: 69,617,684-69,932,353 , GRCh38.p12 chr7: 70,152,698-70,467,367 AUTS2
    nsv4769278copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,593,373-31,906,309 , GRCh38.p12 chrX: 31,575,256-31,888,192 DMD
    nsv6636033copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,676,271-31,986,446 , GRCh38.p12 chrX: 31,658,154-31,968,329 DMD
    nsv4455807copy number variation1nstd102humanPathogenic GRCh37 chr13: 94,120,662-94,430,587 , GRCh38.p12 chr13: 93,468,409-93,778,334 GPC6
    nsv6137763copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,645,780-31,950,354 , GRCh38.p12 chrX: 31,627,663-31,932,237 DMD
    nsv4728680copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,778,982-32,076,838 , GRCh38.p12 chrX: 31,760,865-32,058,721 DMD
    nsv7093716copy number variation1nstd102humanPathogenic GRCh37 chr10: 55,826,507-56,106,254 , GRCh38.p12 chr10: 54,066,747-54,346,494 PCDH15
    nsv4456233copy number variation1nstd102humanPathogenic GRCh37 chr16: 53,789,151-54,049,153 , GRCh38.p12 chr16: 53,755,239-54,015,241 FTO
    nsv4681897copy number variation1nstd102humanPathogenic GRCh37 chrX: 107,683,346-107,939,618 , GRCh38.p12 chrX: 108,440,116-108,696,388 COL4A5
    nsv6290474copy number variation1nstd102humanPathogenic GRCh37 chr2: 51,002,884-51,257,328 , GRCh38.p12 chr2: 50,775,746-51,030,190 NRXN1
    nsv4456613copy number variation1nstd102humanPathogenic GRCh37 chr4: 93,326,311-93,569,881 , GRCh38.p12 chr4: 92,405,160-92,648,730 GRID2
    nsv6290511copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,681,369-31,923,633 , GRCh38.p12 chrX: 31,663,252-31,905,516 DMD
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