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 231

    loading data ...

    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4683664copy number variation1nstd102humanPathogenic GRCh37 chr5: 13,692,073-13,944,567 , GRCh38.p12 chr5: 13,691,964-13,944,458 DNAH5
    nsv7097509copy number variation1nstd102humanPathogenic GRCh37 chr5: 13,823,362-13,944,557 , GRCh38.p12 chr5: 13,823,253-13,944,448 DNAH5
    nsv3880347copy number variation1nstd102humanPathogenic GRCh38 chr7: 21,698,055-21,765,609 , GRCh37 chr7: 21,737,673-21,805,227 DNAH11
    nsv6312179copy number variation1nstd102humanPathogenic GRCh37 chr5: 13,900,305-13,944,557 , GRCh38.p12 chr5: 13,900,196-13,944,448 DNAH5
    nsv7098523copy number variation1nstd102humanPathogenic GRCh37 chrX: 38,132,619-38,164,063 , GRCh38.p12 chrX: 38,273,366-38,304,810 RPGR
    nsv6312460copy number variation1nstd102humanPathogenic GRCh37 chr7: 794,206-825,290 , GRCh38.p12 chr7: 754,569-785,653 DNAAF5
    nsv5980426copy number variation1nstd102humanPathogenic GRCh38 chr2: 26,398,038-26,425,785 , GRCh37.p13 chr2: 26,620,906-26,648,653 DRC1
    nsv6312280copy number variation1nstd102humanPathogenic GRCh37 chr5: 13,894,749-13,917,375 , GRCh38.p12 chr5: 13,894,640-13,917,266 DNAH5
    nsv7096645copy number variation1nstd102humanPathogenic GRCh37 chr2: 26,624,858-26,647,342 , GRCh38.p12 chr2: 26,401,990-26,424,474 DRC1
    nsv7094604copy number variation1nstd102humanPathogenic GRCh37 chr16: 84,188,162-84,203,982 , GRCh38.p12 chr16: 84,154,557-84,170,376 DNAAF1
    nsv4683981copy number variation1nstd102humanPathogenic GRCh37 chr17: 72,270,339-72,285,885 , GRCh38.p12 chr17: 74,274,200-74,289,746 DNAI2
    nsv3880061copy number variation1nstd102humanPathogenic GRCh37 chr7: 21,775,238-21,790,002 , GRCh38 chr7: 21,735,620-21,750,384 DNAH11
    nsv4683688copy number variation1nstd102humanPathogenic GRCh37 chr5: 13,830,187-13,842,968 , GRCh38.p12 chr5: 13,830,078-13,842,859 DNAH5
    nsv6312038copy number variation1nstd102humanPathogenic GRCh37 chr6: 38,690,586-38,697,782 , GRCh38.p12 chr6: 38,722,810-38,730,006 DNAH8
    nsv5673754copy number variation1nstd102humanPathogenic GRCh37 chr5: 13,824,302-13,830,890 , GRCh38.p12 chr5: 13,824,193-13,830,781 DNAH5
    nsv3871940copy number variation1nstd102humanPathogenic GRCh37 chr5: 13,824,308-13,830,884 , GRCh38 chr5: 13,824,199-13,830,775 DNAH5
    nsv7137083copy number variation1nstd102humanPathogenic GRCh38 chr17: 80,085,785-80,092,148 , GRCh37 chr17: 78,059,584-78,065,947 CCDC40
    nsv7097733copy number variation1nstd102humanPathogenic GRCh37 chr7: 21,784,036-21,790,002 , GRCh38.p12 chr7: 21,744,418-21,750,384 DNAH11
    nsv3883685copy number variation1nstd102humanPathogenic GRCh37 chr17: 72,295,837-72,301,601 , GRCh38 chr17: 74,299,698-74,305,462 DNAI2
    nsv4683341copy number variation1nstd102humanPathogenic GRCh37 chr17: 72,295,847-72,301,591 , GRCh38.p12 chr17: 74,299,708-74,305,452 DNAI2
    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