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Items: 12

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    Number of Variants: 12

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095614copy number variation1nstd102humanUncertain significance GRCh37 chr1: 40,766,130-40,771,829 , GRCh38.p12 chr1: 40,300,458-40,306,157 COL9A2
    nsv3893621copy number variation1nstd102humanPathogenic GRCh38 chr1: 38,108,665-42,327,551 , NCBI36 chr1: 38,346,924-42,565,809 , GRCh37 chr1: 38,574,337-42,793,222 COL9A2, NT5C1A, 98 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 COL9A2, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 COL9A2, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 COL9A2, RNU1-153P, 4887 more genes
    nsv3901163copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937 COL9A2, TMEM222, 453 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 COL9A2, LOC107984940, 407 more genes
    nsv3905829copy number variation1nstd102humanPathogenic GRCh38 chr1: 39,360,747-40,900,817 , GRCh37 chr1: 39,826,419-41,366,489 , NCBI36 chr1: 39,599,006-41,139,076 COL9A2, RLF, 53 more genes
    nsv6313549copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 38,679,545-42,556,292 , GRCh38.p12 chr1: 38,213,873-42,090,621 COL9A2, BMP8B, 93 more genes
    nsv6636519copy number variation1nstd102humanUncertain significance GRCh37 chr1: 40,758,393-41,009,559 , GRCh38.p12 chr1: 40,292,721-40,543,887 COL9A2, SMAP2, 7 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 COL9A2, LINC01776, 1853 more genes
    nsv3878135copy number variation1nstd102humanUncertain significance GRCh37 chr1: 33,241,563-46,663,513 , GRCh38.p12 chr1: 32,775,962-46,197,841 COL9A2, LINC02786, 365 more genes
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