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Items: 1 to 20 of 133

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5672793copy number variation1nstd102humanPathogenic GRCh37 chr12: 58,186,759-58,190,376 , GRCh38.p12 chr12: 57,792,976-57,796,593 TSFM, AVIL
    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
    nsv4982448copy number variation1nstd200human GRCh38 chr12: 57,804,677-57,807,612 , GRCh37.p13 chr12: 58,198,460-58,201,395 AVIL, RNU6-1083P
    nsv4982447copy number variation1nstd200human GRCh38 chr12: 57,793,312-57,795,679 , GRCh37.p13 chr12: 58,187,095-58,189,462 TSFM, AVIL
    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
    nsv4683536copy number variation1nstd102humanPathogenic GRCh37 chr12: 58,185,738-58,190,376 , GRCh38.p12 chr12: 57,791,955-57,796,593 AVIL, TSFM
    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
    nsv4208815copy number variation1nstd166human GRCh37.p13 chr12: 58,201,100-58,203,574 , GRCh38.p12 chr12: 57,807,317-57,809,791 AVIL
    nsv4205295copy number variation1nstd166human GRCh37.p13 chr12: 58,201,945-58,202,137 , GRCh38.p12 chr12: 57,808,162-57,808,354 AVIL
    nsv4199335copy number variation1nstd166human GRCh37.p13 chr12: 58,211,450-58,211,575 , GRCh38.p12 chr12: 57,817,667-57,817,792 CTDSP2, AVIL
    nsv4199086copy number variation1nstd166human GRCh37.p13 chr12: 58,183,999-58,192,462 , GRCh38.p12 chr12: 57,790,216-57,798,679 TSFM, 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
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