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Items: 1 to 20 of 128

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112755copy number variation1nstd102humanPathogenic GRCh37 chr12: 65,251,705-75,263,379 , GRCh38.p12 chr12: 64,857,925-74,869,599 LINC02421, TBC1D15, 144 more genes
    nsv5536659insertion1nstd206human GRCh38 chr12: 67,653,001-67,653,047 , GRCh37.p13 chr12: 68,046,781-68,046,827 DYRK2
    nsv5506695copy number variation1nstd206human GRCh38 chr12: 67,646,694-67,646,762 , GRCh37.p13 chr12: 68,040,474-68,040,542 DYRK2
    nsv5132384mobile element insertion1nstd203human GRCh38 chr12: 67,652,996-67,653,001 , GRCh37.p13 chr12: 68,046,776-68,046,781 DYRK2
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv5036282inversion1nstd200human GRCh38 chr12: 52,338,357-95,425,642 , GRCh37.p13 chr12: 52,732,141-95,819,418 , MIR6502, 769 more genes
    nsv4883504inversion1nstd200human GRCh37 chr12: 52,732,141-95,819,418 , GRCh38.p12 chr12: 52,338,357-95,425,642 , MYL6B, 769 more genes
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4551652insertion1nstd166human GRCh37.p13 chr12: 68,046,776-68,046,776 , GRCh38.p12 chr12: 67,652,996-67,652,996 DYRK2
    nsv4345788sequence alteration1nstd166human GRCh37.p13 chr12: 59,785,153-101,478,055 , GRCh38.p12 chr12: 59,391,372-101,084,277 , APAF1, 538 more genes
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv4205529copy number variation1nstd166human GRCh37.p13 chr12: 68,040,452-68,040,542 , GRCh38.p12 chr12: 67,646,672-67,646,762 DYRK2
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 , BTG1P1, 2451 more genes
    nsv3911433copy number variation1nstd102humanPathogenic NCBI36 chr12: 64,125,223-69,706,384 , GRCh38 chr12: 65,445,176-71,026,337 , GRCh37 chr12: 65,838,956-71,420,117 SLC35E3, CCT2, 100 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 , LOH12CR2, 2452 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 , OR5BT1P, 2441 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 , RNA5SP369, 2454 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 , RNU4ATAC16P, 2452 more genes
    nsv3169098inversion1nstd158human GRCh37 chr12: 28,095,967-121,612,723 , GRCh38.p12 chr12: 27,943,034-121,174,920 , ACACB, 1642 more genes
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