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Fig. 4 | Genome Medicine

Fig. 4

From: Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer

Fig. 4

Analysis of the mechanism of germline insertion and deletion events. a Possible mechanism of germline deletion events. The mechanism was estimated from the flow in Fig. S12 (Additional file 1). b Analysis of repeat of breakpoints of each deletion mechanism. Combinations of repeats at both breakpoints are shown. NR, non-repeat. “Within” indicates both breakpoints were included in the same repeats or non-repeats. c Replication timing and insertion events. d Replication timing and deletion events. Replication timing is represented by four groups from left to right, earliest to latest. The proportions of each category are represented by colored bars. The black line is at 0.25, the proportion expected in each group if the categories were divided equally among them. NAHRs were biased toward early replicating regions

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