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Items: 1 to 20 of 98

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5864604copy number variation1nstd209human GRCh38 chr12: 49,326,472-49,327,671 , GRCh37.p13 chr12: 49,720,255-49,721,454 TROAP
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv4972571copy number variation1nstd200human GRCh38 chr12: 49,321,640-49,322,257 , GRCh37.p13 chr12: 49,715,423-49,716,040 TROAP-AS1, TROAP
    nsv4831183copy number variation1nstd200human GRCh37 chr12: 49,715,423-49,716,040 , GRCh38.p12 chr12: 49,321,640-49,322,257 TROAP, TROAP-AS1
    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
    nsv4728980copy number variation1nstd102humanUncertain significance GRCh37 chr12: 49,584,942-49,910,016 , GRCh38.p12 chr12: 49,191,159-49,516,233 LOC100335030, TROAP-AS1, 6 more genes
    nsv4728793copy number variation1nstd102humanUncertain significance GRCh37 chr12: 49,024,019-50,299,974 , GRCh38.p12 chr12: 48,630,236-49,906,191 SPATS2, SPMIP11, 62 more genes
    nsv4386064copy number variation1nstd173human GRCh37 chr12: 49,555,059-49,816,495 , GRCh38.p12 chr12: 49,161,276-49,422,712 TROAP, SPATS2, 7 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
    nsv4211593copy number variation1nstd166human GRCh37.p13 chr12: 49,713,000-49,720,000 , GRCh38.p12 chr12: 49,319,217-49,326,217 TROAP-AS1, TROAP
    nsv4202996copy number variation1nstd166human GRCh37.p13 chr12: 49,713,719-49,716,462 , GRCh38.p12 chr12: 49,319,936-49,322,679 TROAP, TROAP-AS1
    nsv4196299copy number variation1nstd166human GRCh37.p13 chr12: 49,715,423-49,716,040 , GRCh38.p12 chr12: 49,321,640-49,322,257 TROAP, TROAP-AS1
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 , ASIC1, 491 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
    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
    nsv3899982copy number variation1nstd102humanBenign GRCh37 chr12: 49,667,921-49,716,782 , GRCh38.p12 chr12: 49,274,138-49,322,999 TROAP, PRPH, 2 more genes
    nsv3898591copy number variation1nstd102humanPathogenic GRCh37 chr12: 37,857,750-49,791,459 , GRCh38.p12 chr12: 37,463,948-49,397,676 ZNF75BP, YAF2, 195 more genes
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