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Items: 1 to 20 of 45

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3876992copy number variation1nstd102humanBenign GRCh37 chr1: 230,561,315-230,561,975 , GRCh38.p12 chr1: 230,425,569-230,426,229 PGBD5
    nsv4674648copy number variation1nstd102humanUncertain significance GRCh37 chr1: 230,399,487-230,472,415 , GRCh38.p12 chr1: 230,263,741-230,336,669 PGBD5, GALNT2
    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 PGBD5, MIR3123, 221 more genes
    nsv7148175copy number variation1nstd102humanPathogenic GRCh38 chr1: 230,178,121-243,646,135 , GRCh37.p13 chr1: 230,313,867-243,809,437 PGBD5, AGT, 221 more genes
    nsv4674115copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,653,722-234,591,807 , GRCh38.p12 chr1: 223,480,380-234,456,061 PGBD5, 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 PGBD5, RNA5S10, 178 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 PGBD5, ISCA1P2, 146 more genes
    nsv6313841copy number variation1nstd102humanPathogenic GRCh37 chr1: 228,214,912-231,483,538 , GRCh38.p12 chr1: 228,027,211-231,347,792 PGBD5, ISCA1P2, 105 more genes
    nsv7095514copy number variation1nstd102humanPathogenic GRCh37 chr1: 229,567,246-231,413,288 , GRCh38.p12 chr1: 229,431,499-231,277,542 PGBD5, NUP133-DT, 42 more genes
    nsv7095591copy number variation2nstd102humanPathogenic GRCh37 chr1: 230,203,028-231,413,288 , GRCh38.p12 chr1: 230,067,281-231,277,542 PGBD5, CAPN9, 25 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 PGBD5, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 PGBD5, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 PGBD5, 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 PGBD5, RGS18, 1186 more genes
    nsv3881012copy number variation1nstd102humanPathogenic GRCh37 chr1: 195,483,439-249,213,000 , GRCh38.p12 chr1: 195,514,309-248,918,801 PGBD5, LOC105372928, 1062 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 PGBD5, LOC105373279, 1036 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 PGBD5, 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 PGBD5, 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 PGBD5, 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 PGBD5, LOC105373046, 740 more genes
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