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Items: 1 to 20 of 27991

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv3884968copy number variation1nstd102humanPathogenic GRCh37 chrX: 571,286-920,674 , GRCh38.p12 chrX: 610,551-959,939 SHOX
    nsv3871292copy number variation1nstd102humanPathogenic GRCh37 chr12: 23,432,684-23,773,692 , GRCh38 chr12: 23,279,750-23,620,758 SOX5
    nsv6137764copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,645,780-31,986,641 , GRCh38.p12 chrX: 31,627,663-31,968,524 DMD
    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
    nsv7148240copy number variation1nstd102humanPathogenic GRCh38 chrX: 31,782,226-32,088,001 , GRCh37.p13 chrX: 31,800,343-32,106,118 DMD
    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
    nsv4456233copy number variation1nstd102humanPathogenic GRCh37 chr16: 53,789,151-54,049,153 , GRCh38.p12 chr16: 53,755,239-54,015,241 FTO
    nsv4456613copy number variation1nstd102humanPathogenic GRCh37 chr4: 93,326,311-93,569,881 , GRCh38.p12 chr4: 92,405,160-92,648,730 GRID2
    nsv4457328copy number variation1nstd102humanPathogenic GRCh37 chr7: 69,220,855-69,449,057 , GRCh38.p12 chr7: 69,755,869-69,984,071 AUTS2
    nsv6636177copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,792,319-31,986,446 , GRCh38.p12 chrX: 31,774,202-31,968,329 DMD
    nsv4456916copy number variation1nstd102humanPathogenic GRCh37 chr6: 107,573,260-107,767,076 , GRCh38.p12 chr6: 107,252,056-107,445,872 PDSS2
    nsv6636118copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,684,916-31,875,673 , GRCh38.p12 chrX: 31,666,799-31,857,556 DMD
    nsv4455452copy number variation1nstd102humanPathogenic GRCh37 chr7: 69,274,353-69,464,494 , GRCh38.p12 chr7: 69,809,367-69,999,508 AUTS2
    nsv4457014copy number variation1nstd102humanPathogenic GRCh37 chr10: 55,468,897-55,645,953 , GRCh38.p12 chr10: 53,709,137-53,886,193 PCDH15
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