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Items: 1 to 20 of 30375

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3875336copy number variation1nstd102humanPathogenic NCBI36 chr1: 142,513,049-147,499,105 , GRCh37 chr1: 143,721,526-149,232,481 , GRCh38.p12 chr7: 58,093,723-62,429,627 LOC101060796
    nsv6313578copy number variation1nstd102humanPathogenic GRCh37 chr7: 69,145,364-70,023,881 , GRCh38.p12 chr7: 69,680,378-70,558,895 AUTS2
    nsv3921333copy number variation1nstd102humanPathogenic NCBI36 chr7: 68,768,173-69,374,770 , GRCh38 chr7: 69,665,251-70,271,848 , GRCh37 chr7: 69,130,237-69,736,834 AUTS2
    nsv3897330copy number variation1nstd102humanPathogenic GRCh38 chrX: 31,540,244-32,059,446 , GRCh37 chrX: 31,558,361-32,077,563 , NCBI36 chrX: 31,468,282-31,987,484 DMD
    nsv3877736copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,533,207-31,983,162 , GRCh38.p12 chrX: 31,515,090-31,965,045 DMD
    nsv5674225copy number variation1nstd102humanPathogenic GRCh37 chr6: 162,206,900-162,622,150 , GRCh38.p12 chr6: 161,785,868-162,201,118 PRKN
    nsv4769354copy number variation1nstd102humanPathogenic GRCh37 chrX: 534,390-935,361 , GRCh38.p12 chrX: 573,655-974,626 SHOX
    nsv3897255copy number variation1nstd102humanPathogenic GRCh37 chrX: 29,147,023-29,533,186 , GRCh38 chrX: 29,128,906-29,515,069 , NCBI36 chrX: 29,056,944-29,443,107 IL1RAPL1
    nsv3922487copy number variation1nstd102humanPathogenic GRCh37 chr6: 124,437,486-124,820,793 , GRCh38 chr6: 124,116,341-124,499,647 , NCBI36 chr6: 124,479,185-124,862,492 NKAIN2
    nsv3904547copy number variation1nstd102humanPathogenic GRCh37 chr12: 23,899,592-24,266,672 , GRCh38.p12 chr12: 23,746,658-24,113,738 SOX5
    nsv3884968copy number variation1nstd102humanPathogenic GRCh37 chrX: 571,286-920,674 , GRCh38.p12 chrX: 610,551-959,939 SHOX
    nsv3872415copy number variation1nstd102humanPathogenic GRCh37 chrX: 517,225-839,488 , GRCh38.p12 chrX: 556,490-878,753 SHOX
    nsv3905990copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,650,185-31,972,259 , NCBI36 chrX: 31,560,106-31,882,180 , GRCh38 chrX: 31,632,068-31,954,142 DMD
    nsv3897425copy number variation1nstd102humanPathogenic GRCh37 chr7: 69,325,515-69,644,230 , GRCh38.p12 chr7: 69,860,529-70,179,244 AUTS2
    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
    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
    nsv3903514copy number variation1nstd102humanPathogenic NCBI36 chrX: 465,953-765,273 , GRCh38 chrX: 585,218-884,538 , GRCh37 chrX: 545,953-803,877 SHOX
    nsv4728680copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,778,982-32,076,838 , GRCh38.p12 chrX: 31,760,865-32,058,721 DMD
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