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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6311483copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,674,280-219,679,753 , GRCh38.p12 chr2: 218,809,557-218,815,030 CYP27A1
    nsv6311482copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,646,906-219,647,180 , GRCh38.p12 chr2: 218,782,183-218,782,457 CYP27A1
    nsv4681618copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,674,290-219,674,500 , GRCh38.p12 chr2: 218,809,567-218,809,777 CYP27A1
    nsv7096136copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 219,679,083-219,679,753 , GRCh38.p12 chr2: 218,814,360-218,815,030 CYP27A1
    nsv5673611copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 219,679,093-219,679,763 , GRCh38.p12 chr2: 218,814,370-218,815,040 CYP27A1
    nsv7093253copy number variation1nstd102humanUncertain significance GRCh38 chr2: 218,815,000-218,815,146 , GRCh37 chr2: 219,679,723-219,679,869 CYP27A1
    nsv6311556copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,646,906-219,738,567 , GRCh38.p12 chr2: 218,782,183-218,873,845 CYP27A1, WNT6, 4 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 CYP27A1, DAZAP2P1, 2991 more genes
    nsv6313668copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,606,537-239,217,703 , GRCh38.p12 chr2: 218,741,814-238,309,062 CYP27A1, LOC105373947, 357 more genes
    nsv3873368copy number variation1nstd102humanPathogenic GRCh37 chr2: 218,813,434-227,450,699 , GRCh38.p12 chr2: 217,948,711-226,585,983 CYP27A1, ARPC2, 163 more genes
    nsv3881607copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,135,239-220,290,732 , GRCh38.p12 chr2: 218,270,516-219,426,010 CYP27A1, BCS1L, 66 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 CYP27A1, LOC112268439, 3737 more genes
    nsv3874648copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305 CYP27A1, IGKV2OR2-10, 3737 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 CYP27A1, RNU6-674P, 3735 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 CYP27A1, MTND2P22, 3724 more genes
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 CYP27A1, LOC105376755, 1013 more genes
    nsv3890898copy number variation1nstd102humanPathogenic GRCh38 chr2: 188,818,195-242,065,208 , NCBI36 chr2: 189,391,166-242,656,032 , GRCh37 chr2: 189,682,921-243,007,359 CYP27A1, LOC105373909, 901 more genes
    nsv3896499copy number variation1nstd102humanPathogenic GRCh37 chr2: 190,300,875-242,783,384 , NCBI36 chr2: 190,009,120-242,432,057 , GRCh38 chr2: 189,436,149-241,841,232 CYP27A1, RNU6-1206P, 883 more genes
    nsv3908112copy number variation1nstd102humanPathogenic GRCh38 chr2: 190,310,736-241,892,770 , NCBI36 chr2: 190,883,707-242,483,594 , GRCh37 chr2: 191,175,462-242,834,921 CYP27A1, LOC101928084, 871 more genes
    nsv3902143copy number variation1nstd102humanPathogenic GRCh38 chr2: 180,513,793-224,302,848 , NCBI36 chr2: 181,086,765-224,875,809 , GRCh37 chr2: 181,378,520-225,167,565 CYP27A1, LINC00607, 644 more genes
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