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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148277copy number variation1nstd102humanUncertain significance GRCh38 chr2: 71,643,868-71,644,161 , GRCh37.p13 chr2: 71,870,998-71,871,291 DYSF
    nsv7148153copy number variation1nstd102humanPathogenic GRCh38 chr2: 71,503,117-71,517,137 , GRCh37.p13 chr2: 71,730,247-71,744,267 DYSF
    nsv7096906copy number variation1nstd102humanPathogenic GRCh37 chr2: 71,900,503-71,913,622 , GRCh38.p12 chr2: 71,673,373-71,686,492 DYSF
    nsv7096905copy number variation1nstd102humanPathogenic GRCh37 chr2: 71,827,822-71,827,982 , GRCh38.p12 chr2: 71,600,692-71,600,852 DYSF
    nsv7096904copy number variation1nstd102humanPathogenic GRCh37 chr2: 71,801,318-71,801,511 , GRCh38.p12 chr2: 71,574,188-71,574,381 DYSF
    nsv7096903copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 71,693,963-71,744,179 , GRCh38.p12 chr2: 71,466,833-71,517,049 DYSF
    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
    nsv7096676copy number variation1nstd102humanPathogenic GRCh37 chr2: 71,681,119-71,694,073 , GRCh38.p12 chr2: 71,453,989-71,466,943 DYSF
    nsv7096522copy number variation1nstd102humanPathogenic GRCh37 chr2: 71,838,365-71,840,553 , GRCh38.p12 chr2: 71,611,235-71,613,423 DYSF
    nsv7096521copy number variation1nstd102humanPathogenic GRCh37 chr2: 71,793,585-71,797,846 , GRCh38.p12 chr2: 71,566,455-71,570,716 DYSF
    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
    nsv7096422copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 71,755,408-71,755,551 , GRCh38.p12 chr2: 71,528,278-71,528,421 DYSF
    nsv7096421copy number variation1nstd102humanPathogenic GRCh37 chr2: 71,730,324-71,730,469 , GRCh38.p12 chr2: 71,503,194-71,503,339 DYSF
    nsv7096420copy number variation1nstd102humanPathogenic GRCh37 chr2: 71,707,993-71,709,120 , GRCh38.p12 chr2: 71,480,863-71,481,990 DYSF
    nsv7096419copy number variation1nstd102humanUncertain significance GRCh37 chr2: 71,681,129-71,913,622 , GRCh38.p12 chr2: 71,453,999-71,686,492 DYSF
    nsv7093095copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 71,816,614-71,816,756 , GRCh38 chr2: 71,589,484-71,589,626 DYSF
    nsv7052611inversion1nstd229human GRCh38 chr2: 71,407,146-71,563,322 , GRCh37.p13 chr2: 71,634,276-71,790,452 DYSF, ZNF638
    nsv7043848inversion1nstd229human GRCh38 chr2: 71,647,168-71,647,205 , GRCh37.p13 chr2: 71,874,298-71,874,335 DYSF
    nsv6677198copy number variation1nstd229human GRCh38 chr2: 71,521,989-71,543,707 , GRCh37.p13 chr2: 71,749,119-71,770,837 DYSF
    nsv6675706copy number variation1nstd229human GRCh38 chr2: 71,584,116-71,589,126 , GRCh37.p13 chr2: 71,811,246-71,816,256 DYSF
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