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Items: 1 to 20 of 118

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5699216mobile element insertion1nstd211human GRCh38 chr12: 56,124,541-56,124,541 , GRCh37.p13 chr12: 56,518,325-56,518,325 ZC3H10
    nsv5430869mobile element insertion1nstd206human GRCh38 chr12: 56,124,541-56,124,592 , GRCh37.p13 chr12: 56,518,325-56,518,376 ZC3H10
    nsv5278526copy number variation1nstd204human GRCh38.p13 chr12: 55,839,801-56,299,500 , GRCh37.p13 chr12: 56,233,585-56,693,284 , NABP2, 30 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
    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
    nsv4729160copy number variation1nstd102humanUncertain significance GRCh37 chr12: 56,333,246-56,558,418 , GRCh38.p12 chr12: 55,939,462-56,164,634 RPS26, SUOX, 16 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
    nsv4342092sequence alteration1nstd166human GRCh37.p13 chr12: 55,894,696-56,786,542 , GRCh38.p12 chr12: 55,500,912-56,392,758 , CD63, 59 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
    nsv4209340copy number variation1nstd166human GRCh37.p13 chr12: 56,508,975-56,515,500 , GRCh38.p12 chr12: 56,115,191-56,121,716 ZC3H10, RPL41
    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
    nsv3910529copy number variation1nstd102humanPathogenic NCBI36 chr12: 52,100,657-54,882,993 , GRCh38 chr12: 53,420,606-56,202,942 , GRCh37 chr12: 53,814,390-56,596,726 , OR6C72P, 140 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
    nsv3893686copy number variation1nstd102humanUncertain significance GRCh37 chr12: 55,975,308-56,593,032 , GRCh38.p12 chr12: 55,581,524-56,199,248 GDF11, IKZF4, 40 more genes
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