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Items: 13

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    Number of Variants: 13

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4346788copy number variation1nstd102humanPathogenic GRCh37 chr1: 32,859,415-36,454,915 , GRCh38.p12 chr1: 32,393,814-35,989,314 GJB3, LOC100419802, 75 more genes
    nsv6636592copy number variation1nstd102humanPathogenic GRCh37 chr1: 35,104,233-37,357,913 , GRCh38.p12 chr1: 34,638,632-36,892,312 GJB3, EFCAB14P1, 56 more genes
    nsv3883608copy number variation1nstd102humanPathogenic GRCh37 chr1: 34,830,287-36,945,093 , GRCh38.p12 chr1: 34,364,686-36,479,492 GJB3, LSM10, 52 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 GJB3, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 GJB3, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 GJB3, 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 GJB3, TMEM222, 453 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 GJB3, LOC107984940, 407 more genes
    nsv3874782copy number variation1nstd102humanPathogenic GRCh37 chr1: 31,562,164-37,421,958 , GRCh38.p12 chr1: 31,089,317-36,956,357 GJB3, LOC101929444, 143 more genes
    nsv3890386copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 34,992,126-36,293,498 , GRCh37 chr1: 35,219,539-36,520,911 , GRCh38 chr1: 34,753,938-36,055,310 GJB3, GJA4, 31 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 GJB3, 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 GJB3, LINC02786, 365 more genes
    nsv4450314copy number variation1nstd102humanUncertain significance GRCh37 chr1: 34,915,050-36,163,162 , GRCh38.p12 chr1: 34,449,449-35,697,561 GJB3, LOC105378644, 27 more genes
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