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Fig. 2 | Genome Medicine

Fig. 2

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. 2

Germline insertions and deletions. a Length distribution of insertion and deletion events. Insertions and deletions with length ≥ 100 bp were identified, classified to insertion and deletion events, and lengths were compared. b Classification of the repeat(s) in insertion events. c Classification of the repeat(s) in deletion events. We considered sequences as covered by repeat(s) if repeat(s) occupied ≥80% of the sequences. d Classification of SINE families in insertion and deletion events. Families of SINEs that covered indel regions were analyzed. Families with count ≤5 were classified as others. e Classification of LINE families in insertion and deletion events. Families of LINEs that covered the indel regions were analyzed. Families with count ≤5 were classified as others. f Composition of multi-repeats covering indels. Families with count ≤5 were classified as others. g Combination of LINE subfamilies of two LINEs covering insertion events. h Strands of the combination of two LINEs found in insertion events. Combinations of different strands were significantly larger than that of the same strands in L1HS-L1HS and L1HS-L1P1 (Fisher’s exact test)

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