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 364

    loading data ...

    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv997178copy number variation1nstd45humanPathogenic GRCh37 chrX: 122,318,096-122,624,766 , GRCh38.p12 chrX: 123,184,243-123,490,915 GRIA3
    nsv997137copy number variation1nstd45humanPathogenic GRCh38.p12 chr8: 115,408,496-115,669,028 , GRCh37 chr8: 116,420,724-116,681,255 TRPS1
    nsv997145copy number variation1nstd45humanPathogenic GRCh37 chrX: 44,732,421-44,971,857 , GRCh38.p12 chrX: 44,873,175-45,112,612 KDM6A
    nsv997104copy number variation1nstd45humanPathogenic GRCh37 chrX: 8,496,915-8,700,228 , GRCh38.p12 chrX: 8,528,874-8,732,187 ANOS1
    nsv997235copy number variation1nstd45humanPathogenic GRCh38.p12 chr2: 120,797,291-120,992,653 , GRCh37 chr2: 121,554,867-121,750,229 GLI2
    nsv3319002copy number variation1nstd45humanPathogenic GRCh37 chrX: 73,952,691-74,145,287 , GRCh38.p12 chrX: 74,732,856-74,925,452 NEXMIF
    nsv997108copy number variation1nstd45humanPathogenic GRCh38.p12 chr8: 60,678,765-60,868,028 , GRCh37 chr8: 61,591,324-61,780,587 CHD7
    nsv997153copy number variation1nstd45humanPathogenic GRCh37 chrX: 66,763,874-66,950,461 , GRCh38.p12 chrX: 67,544,032-67,730,619 AR
    nsv491564copy number variation1nstd45humanPathogenic GRCh38.p12 chr16: 3,725,055-3,880,120 , GRCh37 chr16: 3,775,056-3,930,121 CREBBP
    nsv3318999copy number variation1nstd45humanPathogenic GRCh37 chrX: 40,944,888-41,095,832 , GRCh38.p12 chrX: 41,085,635-41,236,579 USP9X
    nsv997192copy number variation1nstd45humanPathogenic GRCh37 chr11: 44,117,099-44,266,980 , GRCh38.p12 chr11: 44,095,549-44,245,430 EXT2
    nsv997216copy number variation1nstd45humanPathogenic GRCh38.p12 chr15: 67,065,857-67,195,195 , GRCh37 chr15: 67,358,195-67,487,533 SMAD3
    nsv3071861copy number variation1nstd45humanPathogenic GRCh37 chrX: 109,917,084-110,039,286 , GRCh38.p12 chrX: 110,673,856-110,796,058 CHRDL1
    nsv997142copy number variation1nstd45humanPathogenic GRCh37 chrX: 99,546,642-99,665,271 , GRCh38.p12 chrX: 100,291,644-100,410,273 PCDH19
    nsv997107copy number variation1nstd45humanPathogenic GRCh37 chrX: 110,537,007-110,655,460 , GRCh38.p12 chrX: 111,293,779-111,412,232 DCX
    nsv997118copy number variation1nstd45humanPathogenic GRCh37 chrX: 20,168,029-20,284,750 , GRCh38.p12 chrX: 20,149,911-20,266,632 RPS6KA3
    nsv3170336copy number variation1nstd45humanPathogenic GRCh38.p12 chr2: 182,924,851-183,038,858 , GRCh37 chr2: 183,789,579-183,903,586 NCKAP1
    nsv997128copy number variation1nstd45humanPathogenic GRCh37 chrX: 53,963,113-54,071,569 , GRCh38.p12 chrX: 53,936,680-54,045,136 PHF8
    nsv997162copy number variation1nstd45humanPathogenic GRCh37 chrX: 149,737,047-149,841,616 , GRCh38.p12 chrX: 150,568,597-150,673,143 MTM1
    nsv3170324copy number variation1nstd45humanPathogenic GRCh38.p12 chr2: 60,451,167-60,553,498 , GRCh37 chr2: 60,678,302-60,780,633 BCL11A
    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