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Items: 1 to 20 of 268

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5914967copy number variation1nstd209human GRCh38 chr7: 44,961,111-44,961,795 , GRCh37.p13 chr7: 45,000,710-45,001,394 MYO1G
    nsv5913228copy number variation1nstd209human GRCh38 chr7: 44,960,824-44,961,034 , GRCh37.p13 chr7: 45,000,423-45,000,633 MYO1G
    nsv5912462copy number variation1nstd209human GRCh38 chr7: 44,961,033-44,961,738 , GRCh37.p13 chr7: 45,000,632-45,001,337 MYO1G
    nsv5910113copy number variation1nstd209human GRCh38 chr7: 44,961,187-44,961,257 , GRCh37.p13 chr7: 45,000,786-45,000,856 MYO1G
    nsv5641847insertion1nstd207human GRCh38 chr7: 44,961,447-44,961,447 , GRCh37.p13 chr7: 45,001,046-45,001,046 MYO1G
    nsv5634421insertion1nstd207human GRCh38 chr7: 44,961,255-44,961,255 , GRCh37.p13 chr7: 45,000,854-45,000,854 MYO1G
    nsv5633944insertion1nstd207human GRCh38 chr7: 44,961,744-44,961,744 , GRCh37.p13 chr7: 45,001,343-45,001,343 MYO1G
    nsv5631178insertion1nstd207human GRCh38 chr7: 44,961,450-44,961,450 , GRCh37.p13 chr7: 45,001,049-45,001,049 MYO1G
    nsv5631161insertion1nstd207human GRCh38 chr7: 44,960,926-44,960,926 , GRCh37.p13 chr7: 45,000,525-45,000,525 MYO1G
    nsv5568834copy number variation1nstd207human GRCh38 chr7: 44,961,033-44,961,738 , GRCh37.p13 chr7: 45,000,632-45,001,337 MYO1G
    nsv5567190copy number variation1nstd207human GRCh38 chr7: 44,961,187-44,961,257 , GRCh37.p13 chr7: 45,000,786-45,000,856 MYO1G
    nsv5556950sequence alteration1nstd206human GRCh38 chr7: 44,712,903-47,388,095 , GRCh37.p13 chr7: 44,752,502-47,427,692 , ADCY1, 51 more genes
    nsv5556846sequence alteration1nstd206human GRCh38 chr7: 2,511,247-157,318,976 , GRCh37.p13 chr7: 2,550,881-157,111,670 , AHR, 2675 more genes
    nsv5381787copy number variation1nstd102humanPathogenic GRCh37 chr7: 43,341,583-50,171,623 , GRCh38.p12 chr7: 43,301,984-50,132,027 OGDH, LOC112267918, 110 more genes
    nsv5381783copy number variation1nstd102humanPathogenic GRCh37 chr7: 41,124,364-47,945,566 , GRCh38.p12 chr7: 41,084,766-47,905,969 ELK1P1, URGCP, 121 more genes
    nsv5377489translocation1nstd200human GRCh38 chr7: 44,978,017-44,978,017 , GRCh38 chr3: 46,802,890-46,802,890 , GRCh37.p13 chr7: 45,017,616-45,017,616 , GRCh37.p13 chr3: 46,844,380-46,844,380 MYO1G
    nsv5236835copy number variation1nstd204human GRCh38.p13 chr7: 44,960,901-44,961,800 , GRCh37.p13 chr7: 45,000,500-45,001,399 MYO1G
    nsv5221233copy number variation1nstd204human GRCh38.p13 chr7: 44,597,101-45,000,100 , GRCh37.p13 chr7: 44,636,700-45,039,699 , PPIA, 14 more genes
    nsv5039775inversion1nstd200human GRCh38 chr7: 22,938,090-134,148,361 , GRCh37.p13 chr7: 22,977,709-133,833,114 , NFE4, 1832 more genes
    nsv4953640copy number variation1nstd200human GRCh38 chr7: 44,973,718-44,973,907 , GRCh37.p13 chr7: 45,013,317-45,013,506 MYO1G
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