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Items: 1 to 20 of 196

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5942304copy number variation1nstd209human GRCh38 chr12: 46,825,043-46,825,302 , GRCh37.p13 chr12: 47,218,826-47,219,085 SLC38A4
    nsv5939440copy number variation1nstd209human GRCh38 chr12: 46,831,860-46,831,934 , GRCh37.p13 chr12: 47,225,643-47,225,717 SLC38A4
    nsv5717448mobile element insertion1nstd211human GRCh38 chr12: 46,815,218-46,815,218 , GRCh37.p13 chr12: 47,209,001-47,209,001 SLC38A4
    nsv5716491mobile element insertion1nstd211human GRCh38 chr12: 46,804,497-46,804,497 , GRCh37.p13 chr12: 47,198,280-47,198,280 SLC38A4
    nsv5707229mobile element insertion2nstd211human GRCh38 chr12: 46,827,621-46,827,621 , GRCh37.p13 chr12: 47,221,404-47,221,404 SLC38A4
    nsv5602011copy number variation1nstd207human GRCh38 chr12: 46,825,178-46,825,300 , GRCh37.p13 chr12: 47,218,961-47,219,083 SLC38A4
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 ADCY6, ABCD2, 187 more genes
    nsv5512678copy number variation1nstd206human GRCh38 chr12: 46,785,576-46,785,669 , GRCh37.p13 chr12: 47,179,359-47,179,452 SLC38A4
    nsv5506184copy number variation1nstd206human GRCh38 chr12: 46,831,860-46,831,941 , GRCh37.p13 chr12: 47,225,643-47,225,724 SLC38A4
    nsv5504673copy number variation1nstd206human GRCh38 chr12: 46,822,342-46,825,821 , GRCh37.p13 chr12: 47,216,125-47,219,604 SLC38A4
    nsv5499140copy number variation1nstd206human GRCh38 chr12: 46,810,664-46,810,808 , GRCh37.p13 chr12: 47,204,447-47,204,591 SLC38A4
    nsv5497646copy number variation1nstd206human GRCh38 chr12: 46,815,251-46,815,698 , GRCh37.p13 chr12: 47,209,034-47,209,481 SLC38A4
    nsv5423952mobile element insertion1nstd206human GRCh38 chr12: 46,827,621-46,827,672 , GRCh37.p13 chr12: 47,221,404-47,221,455 SLC38A4
    nsv5379713translocation1nstd200human GRCh38 chr12: 46,815,289-46,815,289 , GRCh38 chr12: 46,814,995-46,814,995 , GRCh37.p13 chr12: 47,209,072-47,209,072 , GRCh37.p13 chr12: 47,208,778-47,208,778 SLC38A4
    nsv5342579translocation1nstd200human GRCh37 chr12: 47,209,097-47,209,097 , GRCh37 chr12: 47,209,033-47,209,033 , GRCh38.p12 chr12: 46,815,250-46,815,250 , GRCh38.p12 chr12: 46,815,314-46,815,314 SLC38A4
    nsv5337174translocation1nstd200human GRCh37 chr12: 47,209,072-47,209,072 , GRCh37 chr12: 47,208,778-47,208,778 , GRCh38.p12 chr12: 46,814,995-46,814,995 , GRCh38.p12 chr12: 46,815,289-46,815,289 SLC38A4
    nsv5334750translocation1nstd200human GRCh37 chr12: 47,209,034-47,209,034 , GRCh37 chr12: 47,209,481-47,209,481 , GRCh38.p12 chr12: 46,815,251-46,815,251 , GRCh38.p12 chr12: 46,815,698-46,815,698 SLC38A4
    nsv5030014inversion1nstd200human GRCh38 chr12: 46,820,112-46,821,357 , GRCh37.p13 chr12: 47,213,895-47,215,140 SLC38A4
    nsv5029954inversion1nstd200human GRCh38 chr12: 38,328,571-48,487,625 , GRCh37.p13 chr12: 38,722,373-48,881,408 , MESDP1, 138 more genes
    nsv4972478copy number variation1nstd200human GRCh38 chr12: 46,780,768-46,781,420 , GRCh37.p13 chr12: 47,174,551-47,175,203 SLC38A4
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