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Items: 1 to 20 of 219

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5887816copy number variation1nstd209human GRCh38 chr2: 169,741,678-169,741,862 , GRCh37.p13 chr2: 170,598,188-170,598,372 PHOSPHO2-KLHL23, KLHL23
    nsv5728633mobile element insertion1nstd211human GRCh38 chr2: 169,734,788-169,734,788 , GRCh37.p13 chr2: 170,591,298-170,591,298 KLHL23, PHOSPHO2-KLHL23
    nsv5623555insertion1nstd207human GRCh38 chr2: 169,738,988-169,738,988 , GRCh37.p13 chr2: 170,595,498-170,595,498 PHOSPHO2-KLHL23, KLHL23
    nsv5622816insertion1nstd207human GRCh38 chr2: 169,750,102-169,750,102 , GRCh37.p13 chr2: 170,606,612-170,606,612 PHOSPHO2-KLHL23, KLHL23
    nsv5616527insertion1nstd207human GRCh38 chr2: 169,738,977-169,738,977 , GRCh37.p13 chr2: 170,595,487-170,595,487 PHOSPHO2-KLHL23, KLHL23
    nsv5607499insertion1nstd207human GRCh38 chr2: 169,749,957-169,749,957 , GRCh37.p13 chr2: 170,606,467-170,606,467 KLHL23, PHOSPHO2-KLHL23
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5350988translocation1nstd200human GRCh38 chr2: 169,741,678-169,741,678 , GRCh38 chr2: 169,741,863-169,741,863 , GRCh37.p13 chr2: 170,598,188-170,598,188 , GRCh37.p13 chr2: 170,598,373-170,598,373 PHOSPHO2-KLHL23, KLHL23
    nsv5331052translocation1nstd200human GRCh37 chr2: 170,598,188-170,598,188 , GRCh37 chr2: 170,598,373-170,598,373 , GRCh38.p12 chr2: 169,741,678-169,741,678 , GRCh38.p12 chr2: 169,741,863-169,741,863 KLHL23, PHOSPHO2-KLHL23
    nsv5280678copy number variation1nstd204human GRCh37.p13 chr2: 170,603,722-170,604,465 , GRCh38.p13 chr2: 169,747,212-169,747,955 PHOSPHO2-KLHL23, KLHL23
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4793808copy number variation1nstd200human GRCh37 chr2: 170,508,774-170,639,804 , GRCh38.p12 chr2: 169,652,264-169,783,294 PHOSPHO2, LOC100421474, 5 more genes
    nsv4789867copy number variation1nstd200human GRCh37 chr2: 170,603,728-170,604,458 , GRCh38.p12 chr2: 169,747,218-169,747,948 PHOSPHO2-KLHL23, KLHL23
    nsv4768307copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,078,055-182,119,617 , GRCh38.p12 chr2: 162,221,545-181,254,890 RBM45, LOC102724194, 258 more genes
    nsv4762581insertion1nstd199human GRCh37 chr2: 170,606,464-170,606,464 , GRCh38.p12 chr2: 169,749,954-169,749,954 KLHL23, PHOSPHO2-KLHL23
    nsv4759753insertion1nstd199human GRCh37 chr2: 170,595,335-170,595,335 , GRCh38.p12 chr2: 169,738,825-169,738,825 KLHL23, PHOSPHO2-KLHL23
    nsv4680847copy number variation1nstd189human GRCh37.p13 chr2: 170,339,628-170,858,121 , GRCh38.p12 chr2: 169,483,118-170,001,611 SSB, PPIG, 14 more genes
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