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Items: 1 to 20 of 83844

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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
    nsv4681940copy number variation1nstd102humanPathogenic GRCh37 chr6: 64,776,231-65,336,138 , GRCh38.p12 chr6: 64,066,338-64,626,245 EYS
    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
    nsv7098031copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,462,578-31,950,364 , GRCh38.p12 chrX: 31,444,461-31,932,247 DMD
    nsv7098380copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,514,885-31,986,651 , GRCh38.p12 chrX: 31,496,768-31,968,534 DMD
    nsv5673991copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,514,895-31,986,641 , GRCh38.p12 chrX: 31,496,778-31,968,524 DMD
    nsv7098267copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,525,378-31,986,651 , GRCh38.p12 chrX: 31,507,261-31,968,534 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
    nsv6634656copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,525,571-31,947,712 , GRCh38.p12 chrX: 31,507,454-31,929,595 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
    nsv6308996copy number variation1nstd102humanPathogenic GRCh37 chr10: 55,755,399-56,138,712 , GRCh38.p12 chr10: 53,995,639-54,378,952 PCDH15
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