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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3870481copy number variation4nstd102humanPathogenic, not provided GRCh37 chr7: 117,138,367-117,159,446 , GRCh38 chr7: 117,498,313-117,519,392 CFTR
    nsv5380731copy number variation3nstd102humanPathogenic, not provided GRCh38 chr12: 6,103,315-6,111,945 , GRCh37 chr12: 6,212,481-6,221,111 VWF
    nsv6290199copy number variation2nstd102humanPathogenic, not provided GRCh38 chr3: 37,044,575-37,048,112 , GRCh37 chr3: 37,086,066-37,089,603 MLH1
    nsv1398330copy number variation3nstd102humannot provided, Pathogenic GRCh37 chr3: 37,064,799-37,068,325 , GRCh38 chr3: 37,023,308-37,026,834 MLH1
    nsv1398089copy number variation3nstd102humannot provided, Pathogenic GRCh37 chr7: 6,028,725-6,029,882 , GRCh38 chr7: 5,989,094-5,990,251 PMS2
    nsv3881287copy number variation2nstd102humannot provided, Pathogenic GRCh38 chr1: 172,665,642-172,665,725 , GRCh37 chr1: 172,634,782-172,634,865 FASLG
    nsv5381813delins2nstd102humannot provided, Pathogenic GRCh37 chr12: 103,287,046-103,293,645 , GRCh38 chr12: 102,893,268-102,899,867 PAH
    nsv3916643copy number variation2nstd102humannot provided, Benign GRCh37 chr8: 137,688,230-137,857,327 , GRCh38 chr8: 136,675,987-136,845,084 LINC02055
    nsv3879123copy number variation2nstd102humannot provided, Benign GRCh37 chr5: 97,048,466-97,099,320 , GRCh38 chr5: 97,712,762-97,763,616 LOC391813
    nsv3917738copy number variation4nstd102humannot provided, Benign GRCh38 chr10: 66,318,723-66,354,723 , GRCh37 chr10: 68,078,481-68,114,481 CTNNA3
    nsv3874731copy number variation2nstd102humannot provided, Likely benign GRCh37 chrX: 38,480,090-38,634,614 , GRCh38.p12 chrX: 38,620,837-38,775,361 TSPAN7
    nsv3887184copy number variation1nstd102humannot provided GRCh37 chrX: 32,232,129-32,536,506 , GRCh38.p12 chrX: 32,214,012-32,518,389 DMD
    nsv7093372copy number variation1nstd102humannot provided GRCh37 chr1: 246,367,970-246,639,585 , GRCh38.p12 chr1: 246,204,668-246,476,283 SMYD3
    nsv3883913copy number variation1nstd102humannot provided GRCh38 chr2: 35,594,620-35,859,993 , GRCh37 chr2: 35,819,686-36,085,059 MRPL50P1
    nsv6291366copy number variation1nstd102humannot provided GRCh37 chr10: 68,295,495-68,526,163 , GRCh38.p12 chr10: 66,535,737-66,766,405 CTNNA3
    nsv4451013copy number variation1nstd102humannot provided GRCh37 chr7: 133,183,599-133,408,919 , GRCh38.p12 chr7: 133,498,845-133,724,166 EXOC4
    nsv3879338copy number variation1nstd102humannot provided GRCh38 chr8: 136,667,562-136,845,084 , GRCh37 chr8: 137,679,805-137,857,327 LINC02055
    nsv3877543copy number variation1nstd102humannot provided GRCh38 chr4: 92,865,624-93,026,952 , GRCh37 chr4: 93,786,775-93,948,103 GRID2
    nsv7098863copy number variation1nstd102humannot provided GRCh37 chr3: 71,021,211-71,181,046 , GRCh38.p12 chr3: 70,972,060-71,131,895 FOXP1
    nsv6137670copy number variation1nstd102humannot provided GRCh38 chr2: 72,371,236-72,504,801 , GRCh37.p13 chr2: 72,598,365-72,731,930 EXOC6B
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