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Items: 1 to 20 of 557

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 more genes
    nsv5964089insertion1nstd209human GRCh38 chrX: 18,481,355-18,481,355 , GRCh37.p13 chrX: 18,499,475-18,499,475 CDKL5
    nsv5885388copy number variation1nstd209human GRCh38 chrX: 18,652,456-18,653,754 , GRCh37.p13 chrX: 18,670,576-18,671,874 CDKL5, RS1
    nsv5882340copy number variation1nstd209human GRCh38 chrX: 18,609,197-18,609,247 , GRCh37.p13 chrX: 18,627,317-18,627,367 CDKL5
    nsv5674192copy number variation1nstd102humanPathogenic GRCh37 chrX: 18,525,211-18,528,980 , GRCh38.p12 chrX: 18,507,091-18,510,860 CDKL5
    nsv5674085copy number variation1nstd102humanPathogenic GRCh37 chrX: 18,582,587-18,627,700 , GRCh38.p12 chrX: 18,564,467-18,609,580 CDKL5
    nsv5673910copy number variation1nstd102humanPathogenic GRCh37 chrX: 18,662,550-18,690,188 , GRCh38.p12 chrX: 18,644,430-18,672,068 RS1, CDKL5
    nsv5673909copy number variation1nstd102humanPathogenic GRCh37 chrX: 18,582,587-18,690,188 , GRCh38.p12 chrX: 18,564,467-18,672,068 CDKL5, RS1
    nsv5615013insertion1nstd207human GRCh38 chrX: 18,481,371-18,481,371 , GRCh37.p13 chrX: 18,499,491-18,499,491 CDKL5
    nsv5564505copy number variation1nstd102humanUncertain significance GRCh37 chrX: 18,442,725-18,672,749 , GRCh38.p12 chrX: 18,424,605-18,654,629 GJA6P, CDKL5, 1 more genes
    nsv5563695sequence alteration1nstd206human GRCh38 chrX: 18,591,333-18,592,492 , GRCh37.p13 chrX: 18,609,453-18,610,612 CDKL5
    nsv5546525insertion1nstd206human GRCh38 chrX: 18,592,488-18,592,488 , GRCh37.p13 chrX: 18,610,608-18,610,608 CDKL5
    nsv5544389insertion1nstd206human GRCh38 chrX: 18,481,371-18,481,371 , GRCh37.p13 chrX: 18,499,491-18,499,491 CDKL5
    nsv5424308copy number variation1nstd206human GRCh38 chrX: 18,450,846-18,451,073 , GRCh37.p13 chrX: 18,468,966-18,469,193 CDKL5
    nsv5423174copy number variation1nstd206human GRCh38 chrX: 18,450,863-18,456,294 , GRCh37.p13 chrX: 18,468,983-18,474,414 CDKL5
    nsv5418288copy number variation1nstd206human GRCh38 chrX: 18,539,509-18,539,717 , GRCh37.p13 chrX: 18,557,629-18,557,837 CDKL5
    nsv5414272copy number variation1nstd206human GRCh38 chrX: 18,472,261-18,472,390 , GRCh37.p13 chrX: 18,490,381-18,490,510 CDKL5
    nsv5381748copy number variation1nstd102humanUncertain significance GRCh37 chrX: 18,668,510-18,668,732 , GRCh38.p12 chrX: 18,650,390-18,650,612 CDKL5, RS1
    nsv5381747copy number variation5nstd102humanUncertain significance GRCh37 chrX: 17,393,881-20,284,750 , GRCh38.p12 chrX: 17,375,758-20,266,632 TMSB10P2, BLOC1S6P1, 37 more genes
    nsv5381713copy number variation1nstd102humanUncertain significance GRCh37 chrX: 18,525,053-18,665,462 , GRCh38.p12 chrX: 18,506,933-18,647,342 RS1, GJA6P, 1 more genes
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