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Items: 12

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    Number of Variants: 12

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3904885copy number variation1nstd102humanPathogenic GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923 HAPLN4, ZNF321P, 2443 more genes
    nsv3903203copy number variation1nstd102humanPathogenic GRCh37 chr19: 260,912-59,097,160 , GRCh38.p12 chr19: 260,912-58,585,793 HAPLN4, BABAM1, 2426 more genes
    nsv3903092copy number variation2nstd102humanPathogenic GRCh37 chr19: 260,912-58,956,888 , GRCh38.p12 chr19: 260,912-58,445,521 HAPLN4, LENG8, 2408 more genes
    nsv3913730copy number variation1nstd102humanPathogenic NCBI36 chr19: 11,199,618-49,821,491 , GRCh37 chr19: 11,338,618-45,129,651 , GRCh38 chr19: 11,227,942-44,626,354 HAPLN4, BCKDHA, 1102 more genes
    nsv3914228copy number variation1nstd102humanPathogenic NCBI36 chr19: 17,148,576-40,106,894 , GRCh38 chr19: 17,176,767-34,924,150 , GRCh37 chr19: 17,287,576-35,415,054 HAPLN4, LOC105372355, 411 more genes
    nsv3922457copy number variation1nstd102humanPathogenic GRCh37 chr19: 14,085,489-28,330,584 , GRCh38 chr19: 13,974,677-27,839,676 , NCBI36 chr19: 13,946,489-33,022,424 HAPLN4, REX1BD, 416 more genes
    nsv3921076copy number variation1nstd102humanPathogenic GRCh38 chr19: 15,133,594-24,193,591 , GRCh37 chr19: 15,244,405-24,376,393 , NCBI36 chr19: 15,105,405-24,168,233 HAPLN4, MRPL34, 358 more genes
    nsv3895942copy number variation1nstd102humanPathogenic GRCh37 chr19: 16,526,787-24,631,604 , GRCh38.p12 chr19: 16,415,976-24,448,802 HAPLN4, BNIP3P37, 307 more genes
    nsv4729750copy number variation1nstd102humanPathogenic GRCh37 chr19: 14,286,624-20,956,753 , GRCh38.p12 chr19: 14,175,812-20,773,947 HAPLN4, LOC105372309, 269 more genes
    nsv6637313copy number variation1nstd102humanUncertain significance GRCh37 chr19: 19,218,464-19,494,045 , GRCh38.p12 chr19: 19,107,655-19,383,236 HAPLN4, BORCS8-MEF2B, 11 more genes
    nsv4457454copy number variation1nstd102humanUncertain significance GRCh37 chr19: 19,230,490-19,440,304 , GRCh38.p12 chr19: 19,119,681-19,329,495 HAPLN4, TM6SF2, 10 more genes
    nsv4436023complex substitution1nstd102humanUncertain significance GRCh38.p12 chr19: 19,120,059-23,932,567 , GRCh37 chr19: 19,230,868-24,115,369 HAPLN4, NCAN, 195 more genes
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