Extended Data Fig. 11: Distribution by length of pathogenic insertions, duplications, deletions, and indels in the ClinVar database.
From: Search-and-replace genome editing without double-strand breaks or donor DNA
The ClinVar variant summary was downloaded from NCBI on 15 July 2019. The lengths of reported insertions, deletions, and duplications were calculated using reference and alternate alleles, variant start and stop positions, or appropriate identifying information in the variant name. Variants that did not report any of the above information were excluded from the analysis. The lengths of reported indels (single variants that include both insertions and deletions relative to the reference genome) were calculated by determining the number of mismatches or gaps in the best pairwise alignment between the reference and alternate alleles. a, Length distribution of insertions. b, Length distribution of duplications. c, Length distribution of deletions. d, Length distribution of indels.
