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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095298copy number variation1nstd102humanPathogenic GRCh37 chr19: 6,718,085-6,720,600 , GRCh38.p12 chr19: 6,718,074-6,720,589 C3
    nsv3877610copy number variation1nstd102humanPathogenic GRCh38 chr19: 6,695,981-6,696,831 , GRCh37 chr19: 6,695,992-6,696,842 C3
    nsv6310880copy number variation1nstd102humanPathogenic GRCh37 chr1: 46,663,448-46,664,153 , GRCh38.p12 chr1: 46,197,776-46,198,481 POMGNT1
    nsv5381282copy number variation1nstd102humanPathogenic GRCh37 chr1: 196,950,208-196,950,209 , GRCh38 chr1: 196,981,078-196,981,079 CFHR5
    nsv7095674copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 6,692,915-6,697,825 , GRCh38.p12 chr19: 6,692,904-6,697,814 C3
    nsv3892107copy number variation1nstd102humanBenign GRCh37 chr21: 28,125,589-28,214,926 , GRCh38.p12 chr21: 26,753,270-26,842,607 ADAMTS1
    nsv7095227copy number variation1nstd102humanUncertain significance GRCh37 chr19: 6,681,932-6,690,758 , GRCh38.p12 chr19: 6,681,921-6,690,747 C3
    nsv7095535copy number variation1nstd102humanPathogenic GRCh37 chr1: 46,656,382-46,662,766 , GRCh38.p12 chr1: 46,190,710-46,197,094 POMGNT1, TSPAN1
    nsv7096053copy number variation1nstd102humanPathogenic GRCh37 chr1: 46,655,193-46,661,449 , GRCh38.p12 chr1: 46,189,521-46,195,777 TSPAN1, POMGNT1
    nsv6310967copy number variation1nstd102humanPathogenic GRCh37 chr1: 46,654,381-46,656,466 , GRCh38.p12 chr1: 46,188,709-46,190,794 TSPAN1, POMGNT1
    nsv4452715copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr1: 46,656,135-46,656,466 , GRCh38 chr1: 46,190,463-46,190,794 TSPAN1, POMGNT1
    nsv6310656copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 46,655,583-46,655,758 , GRCh38 chr1: 46,189,911-46,190,086 TSPAN1, POMGNT1
    nsv6310657copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 46,661,565-46,661,625 , GRCh38 chr1: 46,195,893-46,195,953 TSPAN1, POMGNT1
    nsv7093422delins1nstd102humanLikely pathogenic GRCh37 chr1: 46,662,492-46,662,823 , GRCh38 chr1: 46,196,820-46,197,151 TSPAN1, POMGNT1
    nsv3871060copy number variation1nstd102humanLikely benign GRCh37 chrX: 140,809,187-141,079,768 , GRCh38.p12 chrX: 141,721,031-141,991,982 MAGEC1, MAGEC3
    nsv3881359copy number variation1nstd102humanBenign GRCh37 chrX: 140,930,467-141,033,351 , GRCh38.p12 chrX: 141,842,681-141,945,565 MAGEC1, MAGEC3
    nsv3880171copy number variation1nstd102humanUncertain significance GRCh37 chrX: 140,928,436-141,157,267 , GRCh38.p12 chrX: 141,840,650-142,069,481 MAGEC1, MAGEC3
    nsv3890014copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,654,371-46,663,513 , GRCh38 chr1: 46,188,699-46,197,841 POMGNT1, TSPAN1
    nsv4682480copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,654,904-46,663,503 , GRCh38.p12 chr1: 46,189,232-46,197,831 POMGNT1, TSPAN1
    nsv6310969copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,654,942-46,663,493 , GRCh38.p12 chr1: 46,189,270-46,197,821 POMGNT1, TSPAN1
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