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Items: 7

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    Number of Variants: 7

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv1398490copy number variation2nstd102humanPathogenic GRCh38 chr22: 20,041,612-20,075,431 , GRCh37 chr22: 20,029,135-20,062,954 TANGO2
    nsv4716463copy number variation2nstd102humanPathogenic GRCh37 chr22: 20,036,383-20,045,781 , GRCh38 chr22: 20,048,860-20,058,258 TANGO2
    nsv6315027copy number variation1nstd102humanPathogenic GRCh38 chr16: 1,425,364-1,432,377 , GRCh37 chr16: 1,475,365-1,482,378 LOC105371044, PERCC1
    nsv6315058copy number variation1nstd102humanPathogenic GRCh37 chr16: 1,480,850-1,483,951 , GRCh38 chr16: 1,430,849-1,433,950 CCDC154, PERCC1
    nsv997200copy number variation1nstd45humanPathogenic GRCh38.p12 chr12: 114,353,930-114,408,442 , GRCh37 chr12: 114,791,735-114,846,247 TBX5, TBX5-AS1
    nsv4449631copy number variation1nstd45humanPathogenic GRCh38.p12 chr21: 33,543,038-33,577,514 , GRCh37 chr21: 34,915,344-34,949,820 GART, SON, 3 more genes
    nsv3071864copy number variation1nstd45humanPathogenic GRCh38.p12 chr1: 243,124,428-245,154,985 , GRCh37 chr1: 243,287,730-245,318,287 ADSS2, HNRNPU, 37 more genes
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