Fig. 3

Simple structural variants in the twins of the Chinese Quartet. a Overlap of large deletions and insertions among ILM, HiFi, and HRA, respectively. b Bar plot depicts the percentage of ILM, HiFi, and HRA calls in the final simple SV benchmark, with gray stripes representing the supported percentages by ONT read. c, d Length distribution of tier 1 (v2.0) SVs across Chinese Quartet twins and HG002 (GIAB v0.6). e Bar plots show the percentages of variation supported by ONT reads in seven different combinations of three technologies. The red dotted lines represent the percentage of SVs that are supported by ONT reads across the entire benchmarking set. f Bar plots represent the percentages of SVs at STR regions in seven different combinations of three technologies. The red dotted lines represent the percentage of SVs that span repeat regions across the entire benchmarking set. g Dotplot and IGV snapshot shows a 27-kb deletion at a segmental duplication region