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Items: 1 to 20 of 379

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5963140insertion1nstd209human GRCh38 chr2: 43,971,485-43,971,485 , GRCh37.p13 chr2: 44,198,624-44,198,624 LRPPRC
    nsv5955224insertion1nstd209human GRCh38 chr2: 43,887,143-43,887,143 , GRCh37.p13 chr2: 44,114,282-44,114,282 LRPPRC
    nsv5878676copy number variation1nstd209human GRCh38 chr2: 43,989,936-43,994,739 , GRCh37.p13 chr2: 44,217,075-44,221,878 LRPPRC
    nsv5833349copy number variation1nstd209human GRCh38 chr2: 43,911,526-43,945,867 , GRCh37.p13 chr2: 44,138,665-44,173,006 LRPPRC
    nsv5833348copy number variation1nstd209human GRCh38 chr2: 43,885,205-43,908,536 , GRCh37.p13 chr2: 44,112,344-44,135,675 RNU6-1048P, LRPPRC, 1 more genes
    nsv5833347copy number variation1nstd209human GRCh38 chr2: 43,864,112-43,897,361 , GRCh37.p13 chr2: 44,091,251-44,124,500 LRPPRC, ABCG8, 1 more genes
    nsv5833254copy number variation2nstd209human GRCh38 chr2: 43,988,465-43,994,764 , GRCh37.p13 chr2: 44,215,604-44,221,903 LRPPRC
    nsv5684243mobile element insertion2nstd211human GRCh38 chr2: 43,930,235-43,930,235 , GRCh37.p13 chr2: 44,157,374-44,157,374 LRPPRC
    nsv5674301insertion1nstd102humanPathogenic GRCh37 chr2: 44,209,445-44,209,445 , GRCh38 chr2: 43,982,306-43,982,306 LRPPRC
    nsv5623631insertion1nstd207human GRCh38 chr2: 43,981,271-43,981,271 , GRCh37.p13 chr2: 44,208,410-44,208,410 LRPPRC
    nsv5555901sequence alteration1nstd206human GRCh38 chr2: 43,981,271-43,981,271 , GRCh37.p13 chr2: 44,208,410-44,208,410 LRPPRC
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5553470insertion1nstd206human GRCh38 chr2: 43,981,271-43,981,271 , GRCh37.p13 chr2: 44,208,410-44,208,410 LRPPRC
    nsv5543318insertion1nstd206human GRCh38 chr2: 43,930,235-43,930,270 , GRCh37.p13 chr2: 44,157,374-44,157,409 LRPPRC
    nsv5537591insertion1nstd206human GRCh38 chr2: 43,940,892-43,940,943 , GRCh37.p13 chr2: 44,168,031-44,168,082 LRPPRC
    nsv5447732copy number variation1nstd206human GRCh38 chr2: 43,935,847-43,935,970 , GRCh37.p13 chr2: 44,162,986-44,163,109 LRPPRC
    nsv5438084copy number variation1nstd206human GRCh38 chr2: 43,889,047-43,890,504 , GRCh37.p13 chr2: 44,116,186-44,117,643 LRPPRC
    nsv5359668translocation1nstd200human GRCh38 chr2: 43,918,924-43,918,924 , GRCh38 chr2: 43,919,003-43,919,003 , GRCh37.p13 chr2: 44,146,142-44,146,142 , GRCh37.p13 chr2: 44,146,063-44,146,063 LRPPRC
    nsv5294898copy number variation1nstd204human GRCh37.p13 chr2: 44,078,996-44,115,699 , GRCh38.p13 chr2: 43,851,857-43,888,560 LRPPRC, ABCG8
    nsv5292652copy number variation1nstd204human GRCh37.p13 chr2: 44,218,097-44,387,493 , GRCh38.p13 chr2: 43,990,958-44,160,354 LRPPRC, PPM1B-DT, 1 more genes
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