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Items: 1 to 20 of 397

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137063copy number variation1nstd102humanPathogenic GRCh37 chrX: 200,855-155,240,074 , GRCh38.p12 chrX: 284,188-156,010,409 RN7SL581P, HMGB1P32, 2151 more genes
    nsv7098609copy number variation1nstd102humanPathogenic GRCh37 chrX: 18,665,301-18,665,462 , GRCh38.p12 chrX: 18,647,181-18,647,342 CDKL5, RS1
    nsv7098608copy number variation1nstd102humanPathogenic GRCh37 chrX: 18,662,530-18,690,188 , GRCh38.p12 chrX: 18,644,410-18,672,068 RS1, CDKL5
    nsv7098607copy number variation1nstd102humanUncertain significance GRCh37 chrX: 18,660,124-18,660,296 , GRCh38.p12 chrX: 18,642,004-18,642,176 CDKL5, RS1
    nsv7098362copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chrX: 18,690,117-18,690,188 , GRCh38.p12 chrX: 18,671,997-18,672,068 RS1
    nsv7098361copy number variation1nstd102humanUncertain significance GRCh37 chrX: 18,664,107-19,032,212 , GRCh38.p12 chrX: 18,645,987-19,014,094 PPEF1, RN7SL48P, 10 more genes
    nsv7098360copy number variation1nstd102humanPathogenic GRCh37 chrX: 18,663,320-18,665,330 , GRCh38.p12 chrX: 18,645,200-18,647,210 CDKL5, RS1
    nsv7098359copy number variation1nstd102humanUncertain significance GRCh37 chrX: 18,525,053-20,284,750 , GRCh38.p12 chrX: 18,506,933-20,266,632 PPEF1, PDHA1, 23 more genes
    nsv7098357copy number variation1nstd102humanUncertain significance GRCh37 chrX: 17,393,881-18,665,472 , GRCh38.p12 chrX: 17,375,758-18,647,352 MDM4P1, RS1, 15 more genes
    nsv7098246copy number variation1nstd102humanPathogenic GRCh37 chrX: 18,674,753-18,675,805 , GRCh38.p12 chrX: 18,656,633-18,657,685 RS1
    nsv7098011copy number variation1nstd102humanPathogenic GRCh37 chrX: 18,674,753-18,674,898 , GRCh38.p12 chrX: 18,656,633-18,656,778 RS1
    nsv7098010copy number variation1nstd102humanUncertain significance GRCh37 chrX: 18,593,454-19,086,952 , GRCh38.p12 chrX: 18,575,334-19,068,834 HAUS1P2, CDKL5, 10 more genes
    nsv7085994copy number variation1nstd229human GRCh38 chrX: 18,643,101-18,675,300 , GRCh37.p13 chrX: 18,661,221-18,693,420 PPEF1, CDKL5, 2 more genes
    nsv7085993copy number variation1nstd229human GRCh38 chrX: 18,642,075-18,860,585 , GRCh37.p13 chrX: 18,660,195-18,878,703 PPEF1-AS1, RS1, 4 more genes
    nsv7085992copy number variation1nstd229human GRCh38 chrX: 18,606,901-18,696,400 , GRCh37.p13 chrX: 18,625,021-18,714,519 CDKL5, TRV-TAC1-2, 3 more genes
    nsv7085910copy number variation1nstd229human GRCh38 chrX: 17,506,256-19,477,473 , GRCh37.p13 chrX: 17,524,379-19,495,591 TRV-TAC1-2, LOC101928389, 26 more genes
    nsv7085539copy number variation1nstd229human GRCh38 chrX: 15,461,305-24,177,792 , GRCh37.p13 chrX: 15,479,428-24,195,909 LOC105373146, PIR-FIGF, 104 more genes
    nsv7034497inversion1nstd229human GRCh38 chrX: 18,648,260-18,648,930 , GRCh37.p13 chrX: 18,666,380-18,667,050 RS1, CDKL5
    nsv7021157inversion1nstd229human GRCh38 chrX: 14,244,684-19,508,867 , GRCh37.p13 chrX: 14,262,806-19,526,985 CA5BP1, CDKL5, 74 more genes
    nsv6636170copy number variation1nstd102humanUncertain significance GRCh37 chrX: 18,583,461-19,322,232 , GRCh38.p12 chrX: 18,565,341-19,304,114 RS1, PHKA2-AS1, 10 more genes
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