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Items: 20

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3889778copy number variation1nstd102humanUncertain significance GRCh38 chr12: 57,750,646-57,751,727 , GRCh37 chr12: 58,144,429-58,145,510 TSPAN31, CDK4
    nsv3870501copy number variation1nstd102humanUncertain significance GRCh38 chr12: 57,750,650-57,751,723 , GRCh37 chr12: 58,144,433-58,145,506 TSPAN31, CDK4
    nsv4681739copy number variation1nstd102humanUncertain significance GRCh37 chr12: 58,144,429-58,145,500 , GRCh38.p12 chr12: 57,750,646-57,751,717 TSPAN31, CDK4
    nsv4682466copy number variation2nstd102humanUncertain significance GRCh37 chr12: 58,142,308-58,145,500 , GRCh38.p12 chr12: 57,748,525-57,751,717 TSPAN31, CDK4, 1 more genes
    nsv7094052copy number variation1nstd102humanUncertain significance GRCh37 chr12: 58,144,419-58,160,824 , GRCh38.p12 chr12: 57,750,636-57,767,041 TSPAN31, MARCHF9, 3 more genes
    nsv5380902copy number variation1nstd102humanUncertain significance GRCh37 chr12: 58,140,510-58,145,500 , GRCh38.p12 chr12: 57,746,727-57,751,717 TSPAN31, MIR6759, 1 more genes
    nsv3873935copy number variation1nstd102humanUncertain significance GRCh38 chr12: 57,748,515-57,751,727 , GRCh37 chr12: 58,142,298-58,145,510 TSPAN31, CDK4, 1 more genes
    nsv3911302copy number variation1nstd102humanPathogenic GRCh38 chr12: 57,013,355-63,042,498 , NCBI36 chr12: 55,693,406-61,722,545 , GRCh37 chr12: 57,407,139-63,436,278 TSPAN31, CTDSP2, 97 more genes
    nsv3910298copy number variation1nstd102humanPathogenic GRCh37 chr12: 57,434,942-60,667,715 , GRCh38 chr12: 57,041,158-60,273,934 , NCBI36 chr12: 55,721,209-58,953,982 TSPAN31, MARS1, 72 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 TSPAN31, RNA5SP369, 2454 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 TSPAN31, LOH12CR2, 2452 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 TSPAN31, RNU4ATAC16P, 2452 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 TSPAN31, BTG1P1, 2451 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 TSPAN31, OR5BT1P, 2441 more genes
    nsv4675143copy number variation1nstd102humanPathogenic GRCh37 chr12: 55,552,371-62,126,304 , GRCh38.p12 chr12: 55,158,587-61,732,523 TSPAN31, OR6C71P, 183 more genes
    nsv7098889copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 57,064,059-59,314,016 , GRCh38.p12 chr12: 56,670,275-58,920,235 TSPAN31, CDK4, 77 more genes
    nsv4675952copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 57,582,163-59,031,979 , GRCh38.p12 chr12: 57,188,380-58,638,197 TSPAN31, CDK4, 57 more genes
    nsv6637645copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 57,631,073-58,236,597 , GRCh38.p12 chr12: 57,237,290-57,842,814 TSPAN31, CDK4, 36 more genes
    nsv7093976copy number variation1nstd102humanUncertain significance GRCh37 chr12: 57,534,470-58,190,366 , GRCh38.p12 chr12: 57,140,687-57,796,583 TSPAN31, KIF5A, 37 more genes
    nsv6309275copy number variation1nstd102humanUncertain significance GRCh37 chr12: 57,881,874-58,190,366 , GRCh38.p12 chr12: 57,488,091-57,796,583 TSPAN31, B4GALNT1, 25 more genes
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