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Items: 1 to 20 of 344

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3876707copy number variation1nstd102humanPathogenic GRCh38 chrX: 30,700,906-30,728,743 , GRCh37.p13 chrX: 30,719,023-30,746,860 GK
    nsv7098020copy number variation1nstd102humanPathogenic GRCh37 chrX: 30,322,696-30,327,480 , GRCh38.p12 chrX: 30,304,579-30,309,363 NR0B1
    nsv3889183copy number variation1nstd102humanPathogenic GRCh37 chrX: 30,322,696-30,327,480 , GRCh38 chrX: 30,304,579-30,309,363 NR0B1
    nsv3882098copy number variation1nstd102humanPathogenic GRCh37 chrX: 30,326,053-30,329,380 , GRCh38 chrX: 30,307,936-30,311,263 NR0B1
    nsv3879071copy number variation1nstd102humanPathogenic GRCh37 chrX: 30,738,213-30,738,968 , GRCh38 chrX: 30,720,096-30,720,851 GK
    nsv4674789copy number variation1nstd102humanPathogenic GRCh37 chrX: 29,686,547-29,686,621 , GRCh38.p12 chrX: 29,668,430-29,668,504 IL1RAPL1
    nsv997130copy number variation1nstd45humanPathogenic GRCh37 chrX: 30,322,539-30,327,495 , GRCh38.p12 chrX: 30,304,422-30,309,378 NR0B1
    nsv3905107copy number variation1nstd102humanPathogenic NCBI36 chrX: 30,231,978-30,250,984 , GRCh37 chrX: 30,322,057-30,341,063 , GRCh38 chrX: 30,303,940-30,322,946 NR0B1
    nsv6315579delins1nstd102humanPathogenic GRCh37 chrX: 30,322,274-30,324,504 , GRCh38 chrX: 30,304,157-30,306,387 NR0B1
    nsv3880467copy number variation1nstd102humanBenign GRCh37 chrX: 30,326,814-30,327,501 , GRCh38.p12 chrX: 30,308,697-30,309,384 NR0B1
    nsv6112675copy number variation1nstd102humanUncertain significance GRCh38 chrX: 29,892,903-29,905,635 , GRCh37.p13 chrX: 29,911,020-29,923,752 IL1RAPL1
    nsv3892456copy number variation1nstd102humanUncertain significance GRCh38 chrX: 30,303,676-30,307,893 , NCBI36 chrX: 30,231,714-30,235,931 , GRCh37 chrX: 30,321,793-30,326,010 NR0B1
    nsv4681721copy number variation1nstd102humanUncertain significance GRCh37 chrX: 30,322,676-30,327,500 , GRCh38.p12 chrX: 30,304,559-30,309,383 NR0B1
    nsv3117134copy number variation1nstd145human GRCh37 chrX: 30,317,563-30,322,779 , GRCh38.p12 chrX: 30,299,446-30,304,662 NR0B1
    nsv3114210copy number variation1nstd145human GRCh37 chrX: 30,315,861-30,320,744 , GRCh38.p12 chrX: 30,297,744-30,302,627 NR0B1
    nsv3116019copy number variation3nstd145human GRCh37 chrX: 30,317,563-30,321,721 , GRCh38.p12 chrX: 30,299,446-30,303,604 NR0B1
    nsv3112139copy number variation1nstd145human GRCh37 chrX: 30,317,563-30,320,744 , GRCh38.p12 chrX: 30,299,446-30,302,627 NR0B1
    esv3238590copy number variation1estd209human GRCh37 chrX: 30,321,579-30,321,585 , GRCh38.p12 chrX: 30,303,462-30,303,468 NR0B1
    nsv942787copy number variation1nstd84human GRCh37 chrX: 30,323,894-30,324,014 , GRCh38.p12 chrX: 30,305,777-30,305,897 NR0B1
    esv3431898copy number variation1estd59human NCBI36 chrX: 30,228,202-30,230,500 , GRCh37.p13 chrX: 30,318,281-30,320,579 , GRCh38.p12 chrX: 30,300,164-30,302,462 NR0B1
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