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Items: 1 to 20 of 138

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5502570copy number variation1nstd206human GRCh38 chr12: 57,835,106-57,835,277 , GRCh37.p13 chr12: 58,228,889-58,229,060 LOC105369783, CTDSP2
    nsv5364976translocation1nstd200human GRCh38 chr10: 69,176,461-69,176,461 , GRCh38 chr12: 57,836,641-57,836,641 , GRCh37.p13 chr12: 58,230,424-58,230,424 , GRCh37.p13 chr10: 70,936,217-70,936,217 CTDSP2, LOC105369783
    nsv5301143copy number variation1nstd204human GRCh37.p13 chr12: 58,199,120-58,208,990 , GRCh38.p13 chr12: 57,805,337-57,815,207 CTDSP2, AVIL, 1 more genes
    nsv5278707copy number variation1nstd204human GRCh38.p13 chr12: 57,805,301-57,815,294 , GRCh37.p13 chr12: 58,199,084-58,209,077 CTDSP2, RNU6-1083P, 1 more genes
    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
    nsv4837449copy number variation1nstd200human GRCh37 chr12: 58,235,675-58,236,008 , GRCh38.p12 chr12: 57,841,892-57,842,225 LOC105369783, CTDSP2
    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
    nsv4675952copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 57,582,163-59,031,979 , GRCh38.p12 chr12: 57,188,380-58,638,197 CDK4, CYP27B1, 57 more genes
    nsv4675143copy number variation1nstd102humanPathogenic GRCh37 chr12: 55,552,371-62,126,304 , GRCh38.p12 chr12: 55,158,587-61,732,523 OR6C71P, METTL1, 183 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
    nsv4199335copy number variation1nstd166human GRCh37.p13 chr12: 58,211,450-58,211,575 , GRCh38.p12 chr12: 57,817,667-57,817,792 CTDSP2, AVIL
    nsv3966379copy number variation1nstd168human GRCh38 chr12: 57,801,179-57,822,423 , GRCh37.p13 chr12: 58,194,962-58,216,206 CTDSP2, RNU6-1083P, 2 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 , BTG1P1, 2451 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 CTDSP2, LINC01465, 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 MARS1, LRIG3, 72 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
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