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Items: 14

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    Number of Variants: 14

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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 PIP4K2C, 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 PIP4K2C, MARS1, 72 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 PIP4K2C, RNA5SP369, 2454 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 PIP4K2C, LOH12CR2, 2452 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 PIP4K2C, 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 PIP4K2C, BTG1P1, 2451 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 PIP4K2C, OR5BT1P, 2441 more genes
    nsv4675143copy number variation1nstd102humanPathogenic GRCh37 chr12: 55,552,371-62,126,304 , GRCh38.p12 chr12: 55,158,587-61,732,523 PIP4K2C, 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 PIP4K2C, 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 PIP4K2C, 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 PIP4K2C, CDK4, 36 more genes
    nsv7094217copy number variation1nstd102humanUncertain significance GRCh37 chr12: 57,971,476-58,025,915 , GRCh38.p12 chr12: 57,577,693-57,632,132 PIP4K2C, ARHGEF25, 5 more genes
    nsv7093976copy number variation1nstd102humanUncertain significance GRCh37 chr12: 57,534,470-58,190,366 , GRCh38.p12 chr12: 57,140,687-57,796,583 PIP4K2C, 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 PIP4K2C, B4GALNT1, 25 more genes
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