U.S. flag

An official website of the United States government

Format
Items per page

Send to:

Choose Destination

Search results

Items: 1 to 20 of 7436244

    loading data ...

    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
    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 , NCBI36 chrX: 31,468,282-31,987,484 , GRCh37 chrX: 31,558,361-32,077,563 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
    nsv6308996copy number variation1nstd102humanPathogenic GRCh37 chr10: 55,755,399-56,138,712 , GRCh38.p12 chr10: 53,995,639-54,378,952 PCDH15
    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
    nsv6309068copy number variation1nstd102humanPathogenic GRCh37 chr10: 55,616,925-55,996,701 , GRCh38.p12 chr10: 53,857,165-54,236,941 PCDH15
    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
    Format
    Items per page

    Send to:

    Choose Destination

    Supplemental Content

    Find related data

    Search details

    See more...

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center