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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7093183copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 228,361,904-228,362,411 , GRCh38 chr1: 228,174,203-228,174,710 IBA57
    nsv5381291copy number variation1nstd102humanUncertain significance GRCh37 chr1: 228,345,440-228,363,234 , GRCh38.p12 chr1: 228,157,739-228,175,533 IBA57, IBA57-DT, 1 more genes
    nsv4436266complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 228,165,950-228,360,200 , GRCh37 chr1: 228,353,651-228,547,901 IBA57, OBSCN, 3 more genes
    nsv4674115copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,653,722-234,591,807 , GRCh38.p12 chr1: 223,480,380-234,456,061 IBA57, LOC105373163, 258 more genes
    nsv3899452copy number variation1nstd102humanPathogenic NCBI36 chr1: 224,439,448-231,074,857 , GRCh37 chr1: 226,372,825-233,008,234 , GRCh38 chr1: 226,185,124-232,872,488 IBA57, RNA5S10, 178 more genes
    nsv3908695copy number variation1nstd102humanPathogenic NCBI36 chr1: 221,587,658-226,810,656 , GRCh38 chr1: 223,347,693-228,556,332 , GRCh37 chr1: 223,521,035-228,744,033 IBA57, SNAP47, 137 more genes
    nsv3899116copy number variation1nstd102humanPathogenic NCBI36 chr1: 223,636,497-228,621,170 , GRCh38 chr1: 225,382,172-230,418,801 , GRCh37 chr1: 225,569,874-230,554,547 IBA57, ISCA1P2, 146 more genes
    nsv6313841copy number variation1nstd102humanPathogenic GRCh37 chr1: 228,214,912-231,483,538 , GRCh38.p12 chr1: 228,027,211-231,347,792 IBA57, ISCA1P2, 105 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 IBA57, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 IBA57, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 IBA57, RNU1-153P, 4887 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 IBA57, RGS18, 1186 more genes
    nsv3881012copy number variation1nstd102humanPathogenic GRCh37 chr1: 195,483,439-249,213,000 , GRCh38.p12 chr1: 195,514,309-248,918,801 IBA57, LOC105372928, 1062 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 IBA57, LOC105373279, 1036 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 IBA57, RNA5S8, 893 more genes
    nsv3897747copy number variation1nstd102humanPathogenic GRCh38 chr1: 207,346,642-248,930,485 , GRCh37 chr1: 207,519,987-249,224,684 , NCBI36 chr1: 205,586,610-247,191,307 IBA57, RPS18P3, 793 more genes
    nsv3890682copy number variation1nstd102humanPathogenic GRCh37 chr1: 209,819,552-249,225,312 , NCBI36 chr1: 207,886,175-247,191,935 , GRCh38 chr1: 209,646,207-248,931,113 IBA57, HLX, 749 more genes
    nsv3892818copy number variation1nstd102humanPathogenic GRCh38 chr1: 209,963,625-248,918,469 , GRCh37 chr1: 210,136,970-249,212,668 , NCBI36 chr1: 208,203,593-247,179,291 IBA57, LOC105373046, 740 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 IBA57, HLX-AS1, 740 more genes
    nsv3892503copy number variation1nstd102humanPathogenic NCBI36 chr1: 212,263,778-247,179,291 , GRCh38 chr1: 214,023,812-248,918,469 , GRCh37 chr1: 214,197,155-249,212,668 IBA57, HMGN2P19, 672 more genes
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