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Items: 14

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    Number of Variants: 14

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3901914copy number variation1nstd102humanBenign GRCh37 chr12: 120,426,666-120,427,368 , GRCh38.p12 chr12: 119,988,862-119,989,564 BICDL1
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 BICDL1, RNA5SP369, 2454 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 BICDL1, LOH12CR2, 2452 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 BICDL1, 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 BICDL1, BTG1P1, 2451 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 BICDL1, OR5BT1P, 2441 more genes
    nsv3913894copy number variation1nstd102humanPathogenic NCBI36 chr12: 113,190,591-132,287,975 , GRCh38 chr12: 114,268,403-133,201,316 , GRCh37 chr12: 114,706,208-133,777,902 BICDL1, TAOK3, 386 more genes
    nsv3924220copy number variation1nstd102humanPathogenic GRCh38 chr12: 115,131,583-133,166,920 , NCBI36 chr12: 114,053,771-132,253,579 , GRCh37 chr12: 115,569,388-133,743,506 BICDL1, LOC105370080, 376 more genes
    nsv3920557copy number variation1nstd102humanPathogenic GRCh37 chr12: 118,603,264-133,758,908 , GRCh38 chr12: 118,165,459-133,182,322 , NCBI36 chr12: 117,087,647-132,268,981 BICDL1, TMED2, 339 more genes
    nsv3896575copy number variation1nstd102humanPathogenic GRCh37 chr12: 120,367,241-133,777,645 , GRCh38.p12 chr12: 119,929,437-133,201,059 BICDL1, LOC107984448, 306 more genes
    nsv6290239copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 117,461,902-133,841,395 , GRCh38.p12 chr12: 117,024,097-133,264,809 BICDL1, ACADS, 356 more genes
    nsv3906446copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 118,486,842-120,995,382 , GRCh38.p12 chr12: 118,049,037-120,557,579 BICDL1, COX6A1, 63 more genes
    nsv3922077copy number variation1nstd102humanUncertain significance NCBI36 chr12: 118,209,081-121,689,052 , GRCh38 chr12: 119,286,893-122,638,552 , GRCh37 chr12: 119,724,698-123,123,099 BICDL1, RPS20P31, 94 more genes
    nsv3893326copy number variation1nstd102humanUncertain significance GRCh37 chr12: 120,516,089-121,376,736 , GRCh38.p12 chr12: 120,078,285-120,938,933 BICDL1, RNU6-1088P, 38 more genes
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