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Items: 9

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    Number of Variants: 9

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 BCDIN3D, RNA5SP369, 2454 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 BCDIN3D, LOH12CR2, 2452 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 BCDIN3D, RNU4ATAC16P, 2452 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 BCDIN3D, BTG1P1, 2451 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 BCDIN3D, OR5BT1P, 2441 more genes
    nsv1398632copy number variation1nstd102humanPathogenic GRCh37 chr12: 31,886,971-50,360,461 , GRCh38.p12 chr12: 31,734,037-49,966,678 BCDIN3D, TUBB8P5, 252 more genes
    nsv4728793copy number variation1nstd102humanUncertain significance GRCh37 chr12: 49,024,019-50,299,974 , GRCh38.p12 chr12: 48,630,236-49,906,191 BCDIN3D, SPATS2, 62 more genes
    nsv3922260copy number variation1nstd102humanUncertain significance NCBI36 chr12: 48,520,125-48,995,258 , GRCh38 chr12: 49,840,075-50,315,208 , GRCh37 chr12: 50,233,858-50,708,991 BCDIN3D, CERS5, 21 more genes
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 BCDIN3D, ASIC1, 491 more genes
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