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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6310880copy number variation1nstd102humanPathogenic GRCh37 chr1: 46,663,448-46,664,153 , GRCh38.p12 chr1: 46,197,776-46,198,481 POMGNT1
    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 POMGNT1, TSPAN1
    nsv6310967copy number variation1nstd102humanPathogenic GRCh37 chr1: 46,654,381-46,656,466 , GRCh38.p12 chr1: 46,188,709-46,190,794 POMGNT1, TSPAN1
    nsv4452715copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr1: 46,656,135-46,656,466 , GRCh38 chr1: 46,190,463-46,190,794 POMGNT1, TSPAN1
    nsv6310656copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 46,655,583-46,655,758 , GRCh38 chr1: 46,189,911-46,190,086 POMGNT1, TSPAN1
    nsv6310657copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 46,661,565-46,661,625 , GRCh38 chr1: 46,195,893-46,195,953 POMGNT1, TSPAN1
    nsv7093422delins1nstd102humanLikely pathogenic GRCh37 chr1: 46,662,492-46,662,823 , GRCh38 chr1: 46,196,820-46,197,151 POMGNT1, TSPAN1
    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
    nsv7095534copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,654,942-46,661,769 , GRCh38.p12 chr1: 46,189,270-46,196,097 POMGNT1, TSPAN1
    nsv4683458copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,654,381-46,660,083 , GRCh38.p12 chr1: 46,188,709-46,194,411 POMGNT1, TSPAN1
    nsv7095533copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,654,381-46,659,607 , GRCh38.p12 chr1: 46,188,709-46,193,935 POMGNT1, TSPAN1
    nsv5381219copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,654,904-46,660,083 , GRCh38.p12 chr1: 46,189,232-46,194,411 POMGNT1, TSPAN1
    nsv6310816copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,654,942-46,656,476 , GRCh38.p12 chr1: 46,189,270-46,190,804 POMGNT1, TSPAN1
    nsv6310968copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,654,942-46,655,681 , GRCh38.p12 chr1: 46,189,270-46,190,009 POMGNT1, TSPAN1
    nsv6310879copy number variation1nstd102humanPathogenic GRCh37 chr1: 46,662,483-46,671,639 , GRCh38.p12 chr1: 46,196,811-46,205,967 POMGNT1, TSPAN1, 1 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 POMGNT1, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 POMGNT1, SNAP47, 4927 more genes
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