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Table 2 Summary of curated collection of deleterious SVs

From: SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

  Deletions Duplications Inversions Insertions Translocations Total
Multiple genes 7 2 4 N/A 5 18
Multiple exons 37 19 5 N/A N/A 61
Single exon 81 16 2 3 N/A 102
Promoter 5 0 0 0 0 5
Intronic 2 0 0 0 N/A 2
Total 132 37 11 3 5 188
  1. We curated a collection of 188 published deleterious SVs based on 182 cases published in 146 clinical case reports. We considered five classes of SVs commonly present in LRS variant calling results: deletions, duplications, inversions, insertions, and translocations. We further classified the SVs into five functional categories based on the number of affected genes and the relative location of the SV region with respect to transcripts of genes. The case reports are available for download