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Items: 1 to 20 of 148

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5555255sequence alteration1nstd206human GRCh38 chr12: 53,306,612-53,307,373 , GRCh37.p13 chr12: 53,700,396-53,701,157 AAAS, MYG1
    nsv5549478insertion1nstd206human GRCh38 chr12: 53,306,613-53,306,613 , GRCh37.p13 chr12: 53,700,397-53,700,397 MYG1, AAAS
    nsv5495067copy number variation1nstd206human GRCh38 chr12: 53,316,498-53,317,275 , GRCh37.p13 chr12: 53,710,282-53,711,059 AAAS
    nsv5269754copy number variation1nstd204human GRCh38.p13 chr12: 53,319,601-53,446,000 , GRCh37.p13 chr12: 53,713,385-53,839,784 SP7, PRR13, 3 more genes
    nsv5266008copy number variation1nstd204human GRCh38.p13 chr12: 53,248,501-53,495,800 , GRCh37.p13 chr12: 53,642,285-53,889,584 PCBP2, AAAS, 11 more genes
    nsv5133801mobile element insertion1nstd203human GRCh38 chr12: 53,316,764-53,316,785 , GRCh37.p13 chr12: 53,710,548-53,710,569 AAAS
    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
    nsv4972754copy number variation1nstd200human GRCh38 chr12: 53,316,238-53,317,285 , GRCh37.p13 chr12: 53,710,022-53,711,069 AAAS
    nsv4972753copy number variation1nstd200human GRCh38 chr12: 53,313,089-53,314,184 , GRCh37.p13 chr12: 53,706,873-53,707,968 AAAS
    nsv4883504inversion1nstd200human GRCh37 chr12: 52,732,141-95,819,418 , GRCh38.p12 chr12: 52,338,357-95,425,642 , MYL6B, 769 more genes
    nsv4835579copy number variation1nstd200human GRCh37 chr12: 53,706,873-53,707,968 , GRCh38.p12 chr12: 53,313,089-53,314,184 AAAS
    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
    nsv4729204copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 53,614,278-53,971,802 , GRCh38.p12 chr12: 53,220,494-53,578,018 AMHR2, PCBP2, 18 more genes
    nsv4729090copy number variation1nstd102humanUncertain significance GRCh37 chr12: 53,372,321-53,864,490 , GRCh38.p12 chr12: 52,978,537-53,470,706 SPRYD3, ITGB7, 25 more genes
    nsv4576411mobile element insertion1nstd166human GRCh37.p13 chr12: 53,709,936-53,709,936 , GRCh38.p12 chr12: 53,316,152-53,316,152 AAAS
    nsv4559196inversion1nstd166human GRCh37.p13 chr12: 51,569,865-55,219,228 , GRCh38.p12 chr12: 51,176,082-54,825,444 , EIF4B, 163 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
    nsv3971772copy number variation1nstd102humanPathogenic GRCh38 chr12: 53,306,793-53,321,761 , GRCh37.p13 chr12: 53,700,577-53,715,545 AAAS, MYG1
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