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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3870816copy number variation1nstd102humanLikely benign GRCh37 chr1: 231,413,309-231,487,406 , GRCh38.p12 chr1: 231,277,563-231,351,660 SPRTN, GNPAT, 2 more genes
    nsv3904200copy number variation1nstd102humanPathogenic GRCh38 chr1: 230,106,271-243,677,283 , NCBI36 chr1: 228,308,641-241,907,208 , GRCh37 chr1: 230,242,018-243,840,585 SPRTN, MIR3123, 221 more genes
    nsv7148175copy number variation1nstd102humanPathogenic GRCh38 chr1: 230,178,121-243,646,135 , GRCh37.p13 chr1: 230,313,867-243,809,437 SPRTN, AGT, 221 more genes
    nsv4674115copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,653,722-234,591,807 , GRCh38.p12 chr1: 223,480,380-234,456,061 SPRTN, 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 SPRTN, RNA5S10, 178 more genes
    nsv6112661copy number variation1nstd102humanPathogenic GRCh37 chr1: 231,407,943-237,289,859 , GRCh38.p12 chr1: 231,272,197-237,126,559 SPRTN, LOC105373207, 113 more genes
    nsv6313841copy number variation1nstd102humanPathogenic GRCh37 chr1: 228,214,912-231,483,538 , GRCh38.p12 chr1: 228,027,211-231,347,792 SPRTN, ISCA1P2, 105 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 SPRTN, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 SPRTN, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 SPRTN, 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 SPRTN, RGS18, 1186 more genes
    nsv3881012copy number variation1nstd102humanPathogenic GRCh37 chr1: 195,483,439-249,213,000 , GRCh38.p12 chr1: 195,514,309-248,918,801 SPRTN, LOC105372928, 1062 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 SPRTN, LOC105373279, 1036 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 SPRTN, 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 SPRTN, 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 SPRTN, 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 SPRTN, LOC105373046, 740 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 SPRTN, 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 SPRTN, HMGN2P19, 672 more genes
    nsv3873236copy number variation1nstd102humanPathogenic GRCh37 chr1: 218,252,551-249,224,684 , GRCh38.p12 chr1: 218,079,209-248,930,485 SPRTN, C1orf198, 643 more genes
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