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Items: 1 to 20 of 330

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5977145inversion1nstd209human GRCh37.p13 chr5: 60,211,534-60,213,744 , GRCh38 chr5: 60,915,707-60,917,917 ERCC8, ERCC8-AS1
    nsv5906703copy number variation1nstd209human GRCh38 chr5: 60,898,966-60,899,127 , GRCh37.p13 chr5: 60,194,793-60,194,954 ERCC8
    nsv5904776copy number variation1nstd209human GRCh38 chr5: 60,911,995-60,917,353 , GRCh37.p13 chr5: 60,207,822-60,213,180 ERCC8-AS1, ERCC8
    nsv5904577copy number variation1nstd209human GRCh38 chr5: 60,930,514-60,930,682 , GRCh37.p13 chr5: 60,226,341-60,226,509 ERCC8
    nsv5901952copy number variation1nstd209human GRCh38 chr5: 60,825,188-61,041,210 , GRCh37.p13 chr5: 60,121,015-60,337,037 ELOVL7, GNL3LP1, 3 more genes
    nsv5843369copy number variation2nstd209human GRCh38 chr5: 60,911,972-60,917,337 , GRCh37.p13 chr5: 60,207,799-60,213,164 ERCC8, ERCC8-AS1
    nsv5843111copy number variation2nstd209human GRCh38 chr5: 60,884,261-60,885,710 , GRCh37.p13 chr5: 60,180,088-60,181,537 ERCC8
    nsv5842796copy number variation2nstd209human GRCh38 chr5: 60,917,638-60,921,319 , GRCh37.p13 chr5: 60,213,465-60,217,146 ERCC8, ERCC8-AS1
    nsv5729887mobile element insertion1nstd211human GRCh38 chr5: 60,917,354-60,917,354 , GRCh37.p13 chr5: 60,213,181-60,213,181 ERCC8, ERCC8-AS1
    nsv5687684mobile element insertion2nstd211human GRCh38 chr5: 60,884,537-60,884,537 , GRCh37.p13 chr5: 60,180,364-60,180,364 ERCC8
    nsv5679064mobile element insertion1nstd211human GRCh38 chr5: 60,936,174-60,936,174 , GRCh37.p13 chr5: 60,232,001-60,232,001 ERCC8
    nsv5678233mobile element insertion1nstd211human GRCh38 chr5: 60,885,727-60,885,727 , GRCh37.p13 chr5: 60,181,554-60,181,554 ERCC8
    nsv5673588copy number variation1nstd102humanPathogenic GRCh37 chr5: 60,240,749-60,241,219 , GRCh38.p12 chr5: 60,944,922-60,945,392 ERCC8, NDUFAF2
    nsv5673586copy number variation1nstd102humanPathogenic GRCh37 chr5: 60,170,432-60,195,564 , GRCh38.p12 chr5: 60,874,605-60,899,737 ERCC8, GNL3LP1
    nsv5673519copy number variation1nstd102humanPathogenic GRCh37 chr5: 60,170,432-60,224,796 , GRCh38.p12 chr5: 60,874,605-60,928,969 ERCC8-AS1, GNL3LP1, 1 more genes
    nsv5673518copy number variation1nstd102humanPathogenic GRCh37 chr5: 60,170,432-60,217,992 , GRCh38.p12 chr5: 60,874,605-60,922,165 ERCC8-AS1, GNL3LP1, 1 more genes
    nsv5629217insertion1nstd207human GRCh38 chr5: 60,936,713-60,936,713 , GRCh37.p13 chr5: 60,232,540-60,232,540 ERCC8
    nsv5469360copy number variation1nstd206human GRCh38 chr5: 60,884,020-60,885,727 , GRCh37.p13 chr5: 60,179,847-60,181,554 ERCC8
    nsv5468500copy number variation1nstd206human GRCh38 chr5: 60,912,002-60,917,354 , GRCh37.p13 chr5: 60,207,829-60,213,181 ERCC8-AS1, ERCC8
    nsv5465192copy number variation1nstd206human GRCh38 chr5: 60,910,670-60,910,992 , GRCh37.p13 chr5: 60,206,497-60,206,819 ERCC8
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