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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6129408insertion1nstd186human GRCh37 chr21: 46,825,210-46,825,253 , GRCh38.p12 chr21: 45,405,295-45,405,338 BNAT1, COL18A1
    nsv5975829insertion1nstd209human GRCh38 chr21: 45,405,084-45,405,084 , GRCh37.p13 chr21: 46,824,999-46,824,999 COL18A1, BNAT1
    nsv5974793insertion1nstd209human GRCh38 chr21: 45,405,287-45,405,287 , GRCh37.p13 chr21: 46,825,202-46,825,202 COL18A1, BNAT1
    nsv5952675copy number variation1nstd209human GRCh38 chr21: 45,299,999-45,440,620 , GRCh37.p13 chr21: 46,719,914-46,860,534 , COL18A1, 6 more genes
    nsv5668632insertion1nstd207human GRCh38 chr21: 45,405,287-45,405,287 , GRCh37.p13 chr21: 46,825,202-46,825,202 COL18A1, BNAT1
    nsv5546352insertion1nstd206human GRCh38 chr21: 45,405,295-45,405,338 , GRCh37.p13 chr21: 46,825,210-46,825,253 BNAT1, COL18A1
    nsv5328719copy number variation1nstd204human GRCh38.p13 chr21: 45,325,126-45,561,868 , GRCh37.p13 chr21: 46,745,041-46,981,782 , MTCO1P3, 9 more genes
    nsv5286182copy number variation1nstd204human GRCh38.p13 chr21: 45,387,523-45,421,342 , GRCh37.p13 chr21: 46,807,438-46,841,257 BNAT1, COL18A1, 2 more genes
    nsv5283727copy number variation1nstd204human GRCh38.p13 chr21: 45,340,701-45,595,700 , GRCh37.p13 chr21: 46,760,616-47,015,614 , MIR6815, 10 more genes
    nsv5171290mobile element insertion1nstd203human GRCh38 chr21: 45,403,833-45,403,849 , GRCh37.p13 chr21: 46,823,748-46,823,764 COL18A1, BNAT1
    nsv5039053copy number variation1nstd200human GRCh38 chr21: 45,299,275-45,425,769 , GRCh37.p13 chr21: 46,719,190-46,845,684 , COL18A1-AS1, 6 more genes
    nsv5030432copy number variation1nstd200human GRCh38 chr21: 45,325,134-45,561,861 , GRCh37.p13 chr21: 46,745,049-46,981,775 , LINC00316, 9 more genes
    nsv5030155copy number variation1nstd200human GRCh38 chr21: 45,145,659-45,425,181 , GRCh37.p13 chr21: 46,565,574-46,845,096 , COL18A1-AS1, 10 more genes
    nsv4869310copy number variation1nstd200human GRCh37 chr21: 46,745,049-46,981,775 , GRCh38.p12 chr21: 45,325,134-45,561,861 , LINC00316, 9 more genes
    nsv4869308copy number variation1nstd200human GRCh37 chr21: 46,719,190-46,845,684 , GRCh38.p12 chr21: 45,299,275-45,425,769 , MTCO1P3, 6 more genes
    nsv4869307copy number variation1nstd200human GRCh37 chr21: 46,565,574-46,845,096 , GRCh38.p12 chr21: 45,145,659-45,425,181 , LINC00334, 10 more genes
    nsv4756953insertion1nstd199human GRCh37 chr21: 46,825,207-46,825,207 , GRCh38.p12 chr21: 45,405,292-45,405,292 COL18A1, BNAT1
    nsv4730021copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,629,063-48,090,317 , GRCh38.p12 chr21: 13,256,742-46,670,405 SLX9, LOC105372750, 619 more genes
    nsv4721062insertion1nstd186human GRCh37 chr21: 46,825,202-46,825,202 , GRCh38.p12 chr21: 45,405,287-45,405,287 COL18A1, BNAT1
    nsv4679058copy number variation1nstd189human GRCh37.p13 chr21: 14,468,835-48,129,895 , GRCh38.p12 chr21: 13,096,514-46,699,983 , ADARB1, 652 more genes
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