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Items: 1 to 20 of 7193538

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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
    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
    nsv3876238copy number variation1nstd102humanPathogenic GRCh38 chr7: 69,899,499-70,435,751 , GRCh37.p13 chr7: 69,364,485-69,900,737 AUTS2
    nsv5674197copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,462,578-31,986,651 , GRCh38.p12 chrX: 31,444,461-31,968,534 DMD
    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
    nsv5673991copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,514,895-31,986,641 , GRCh38.p12 chrX: 31,496,778-31,968,524 DMD
    nsv5673919copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,496,203-31,950,364 , GRCh38.p12 chrX: 31,478,086-31,932,247 DMD
    nsv3875940copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,496,223-31,950,344 , GRCh38 chrX: 31,478,106-31,932,227 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
    nsv5673683copy number variation1nstd102humanPathogenic GRCh37 chr6: 64,940,485-65,336,138 , GRCh38.p12 chr6: 64,230,592-64,626,245 EYS
    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 , NCBI36 chr6: 124,479,185-124,862,492 , GRCh38 chr6: 124,116,341-124,499,647 NKAIN2
    nsv3877892copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,514,885-31,893,510 , GRCh38 chrX: 31,496,768-31,875,393 DMD
    nsv3874728copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,514,905-31,893,490 , GRCh38 chrX: 31,496,788-31,875,373 DMD
    nsv4681237copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,613,687-31,986,641 , GRCh38.p12 chrX: 31,595,570-31,968,524 DMD
    nsv3875878copy number variation1nstd102humanPathogenic GRCh38 chrX: 31,609,584-31,968,514 , GRCh37 chrX: 31,627,701-31,986,631 DMD
    nsv3884958copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,627,738-31,986,651 , GRCh38 chrX: 31,609,621-31,968,534 DMD
    nsv4451871copy number variation1nstd102humanPathogenic GRCh38 chrX: 31,609,621-31,968,524 , GRCh37 chrX: 31,627,738-31,986,641 DMD
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