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Items: 1 to 20 of 1243

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148204copy number variation1nstd102humanPathogenic GRCh38 chr5: 9,999-14,320,000 , GRCh37.p13 chr5: 10,001-14,320,109 LOC105379638, LOC100420683, 185 more genes
    nsv7145571copy number variation1nstd232human GRCh37.p13 chr5: 13,803,088-13,803,142 , GRCh38.p12 chr5: 13,802,979-13,803,033 DNAH5
    nsv7143882insertion1nstd232human GRCh37.p13 chr5: 13,895,092-13,895,092 , GRCh38.p12 chr5: 13,894,983-13,894,983 DNAH5
    nsv7137899copy number variation1nstd232human GRCh37.p13 chr5: 13,982,749-13,982,804 , GRCh38.p12 chr5: 13,982,640-13,982,695 DNAH5
    nsv7098841copy number variation1nstd102humanPathogenic GRCh37 chr5: 10,149,255-18,180,300 , GRCh38.p12 chr5: 10,149,143-18,180,191 RN7SKP133, TAF11L1, 102 more genes
    nsv7097511copy number variation1nstd102humanPathogenic GRCh37 chr5: 13,931,199-13,931,373 , GRCh38.p12 chr5: 13,931,090-13,931,264 DNAH5
    nsv7097509copy number variation1nstd102humanPathogenic GRCh37 chr5: 13,823,362-13,944,557 , GRCh38.p12 chr5: 13,823,253-13,944,448 DNAH5
    nsv7097507copy number variation1nstd102humanPathogenic GRCh37 chr5: 13,780,928-13,781,078 , GRCh38.p12 chr5: 13,780,819-13,780,969 DNAH5
    nsv7097126copy number variation1nstd102humanPathogenic GRCh37 chr5: 13,922,434-13,923,774 , GRCh38.p12 chr5: 13,922,325-13,923,665 DNAH5
    nsv7097124copy number variation1nstd102humanLikely pathogenic GRCh37 chr5: 13,841,005-13,841,249 , GRCh38.p12 chr5: 13,840,896-13,841,140 DNAH5
    nsv7097117copy number variation1nstd102humanUncertain significance GRCh37 chr5: 13,792,102-14,184,284 , GRCh38.p12 chr5: 13,791,993-14,184,175 DNAH5, TRIO
    nsv7097116copy number variation1nstd102humanPathogenic GRCh37 chr5: 13,751,177-13,754,457 , GRCh38.p12 chr5: 13,751,068-13,754,348 DNAH5
    nsv7097021copy number variation1nstd102humanUncertain significance GRCh37 chr5: 13,692,093-13,754,467 , GRCh38.p12 chr5: 13,691,984-13,754,358 DNAH5
    nsv7096757copy number variation1nstd102humanLikely pathogenic GRCh37 chr5: 13,899,162-13,901,374 , GRCh38.p12 chr5: 13,899,053-13,901,265 DNAH5
    nsv7054980inversion1nstd229human GRCh38 chr5: 13,912,020-13,924,248 , GRCh37.p13 chr5: 13,912,129-13,924,357 DNAH5
    nsv7053949inversion1nstd229human GRCh38 chr5: 12,599,104-19,642,739 , GRCh37.p13 chr5: 12,599,216-19,642,848 H3P18, H3P19, 86 more genes
    nsv7049801inversion1nstd229human GRCh38 chr5: 13,579,109-16,991,898 , GRCh37.p13 chr5: 13,579,218-16,992,007 MARCHF11-DT, OTULIN, 41 more genes
    nsv7038701inversion1nstd229human GRCh38 chr5: 12,558,868-18,815,622 , GRCh37.p13 chr5: 12,558,980-18,815,731 FBXL7, LINC02223, 81 more genes
    nsv6777886copy number variation1nstd229human GRCh38 chr5: 14,000,038-14,002,183 , GRCh37.p13 chr5: 14,000,147-14,002,292 DNAH5
    nsv6777819copy number variation1nstd229human GRCh38 chr5: 13,855,208-13,855,506 , GRCh37.p13 chr5: 13,855,317-13,855,615 DNAH5
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