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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096902copy number variation3nstd102humanPathogenic GRCh37 chr2: 71,004,499-74,779,761 , GRCh38.p12 chr2: 70,777,367-74,552,634 TAF13P2, LOC107985897, 100 more genes
    nsv7096520copy number variation1nstd102humanUncertain significance GRCh37 chr2: 69,240,632-74,779,761 , GRCh38.p12 chr2: 69,013,500-74,552,634 LOC112268419, DQX1, 140 more genes
    nsv7058023inversion1nstd229human GRCh38 chr2: 70,984,842-71,331,695 , GRCh37.p13 chr2: 71,260,430-71,558,825 TRE-CTC15-1, MCEE, 11 more genes
    nsv7055397inversion1nstd229human GRCh38 chr2: 71,401,172-71,407,691 , GRCh37.p13 chr2: 71,628,302-71,634,821 ZNF638
    nsv7052611inversion1nstd229human GRCh38 chr2: 71,407,146-71,563,322 , GRCh37.p13 chr2: 71,634,276-71,790,452 DYSF, ZNF638
    nsv7041311inversion1nstd229human GRCh38 chr2: 71,317,709-71,344,643 , GRCh37.p13 chr2: 71,544,839-71,571,773 ZNF638
    nsv6677320copy number variation1nstd229human GRCh38 chr2: 71,294,401-71,344,700 , GRCh37.p13 chr2: 71,521,531-71,571,830 ZNF638
    nsv6674057copy number variation1nstd229human GRCh38 chr2: 71,330,944-71,331,399 , GRCh37.p13 chr2: 71,558,074-71,558,529 ZNF638
    nsv6673179copy number variation1nstd229human GRCh38 chr2: 71,326,471-71,330,781 , GRCh37.p13 chr2: 71,553,601-71,557,911 ZNF638
    nsv6670849copy number variation1nstd229human GRCh38 chr2: 71,386,801-71,392,000 , GRCh37.p13 chr2: 71,613,931-71,619,130 ZNF638
    nsv6670702copy number variation1nstd229human GRCh38 chr2: 71,375,275-71,375,646 , GRCh37.p13 chr2: 71,602,405-71,602,776 ZNF638
    nsv6668551copy number variation1nstd229human GRCh38 chr2: 71,388,360-71,388,406 , GRCh37.p13 chr2: 71,615,490-71,615,536 ZNF638
    nsv6668485copy number variation1nstd229human GRCh38 chr2: 71,372,801-71,376,300 , GRCh37.p13 chr2: 71,599,931-71,603,430 ZNF638
    nsv6666774copy number variation1nstd229human GRCh38 chr2: 71,346,594-71,990,207 , GRCh37.p13 chr2: 71,573,724-72,217,337 RNU6-105P, DYSF, 2 more genes
    nsv6666196copy number variation1nstd229human GRCh38 chr2: 71,411,262-71,569,034 , GRCh37.p13 chr2: 71,638,392-71,796,164 ZNF638, DYSF
    nsv6664565copy number variation1nstd229human GRCh38 chr2: 71,343,863-71,343,908 , GRCh37.p13 chr2: 71,570,993-71,571,038 ZNF638
    nsv6664174copy number variation1nstd229human GRCh38 chr2: 71,428,146-71,430,428 , GRCh37.p13 chr2: 71,655,276-71,657,558 ZNF638
    nsv6661829copy number variation1nstd229human GRCh38 chr2: 71,401,201-71,563,300 , GRCh37.p13 chr2: 71,628,331-71,790,430 DYSF, ZNF638
    nsv6661645copy number variation1nstd229human GRCh38 chr2: 71,370,593-71,375,748 , GRCh37.p13 chr2: 71,597,723-71,602,878 ZNF638
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
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