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Table 2 Repetitive elements associated with cxSV reference breakpoints in the four participants

From: Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Participant

Breakpointa

Coordinate of breakpoint

Repetitive elements

P1

A3′-B5′

6:151443332

91% LTR/ERVL-MaLR

B3′-C5′

6:154768570

32% DNA/hAT-Charlie

C3′-D5′

6:154774047

75% LTR/ERVL-MaLR

D3′-E5′

6:154778901

26% LINE/L2

E3′-F5′

6:154778992

P2

A3′-B5′

1:244867200

70% SINE/Alu

B3′-C5′

1:246064238

C3′-D5′

1:246569871

45% SINE/MIR

D3′-E5′

1:246816211

88% SINE/Alu

P3

A3′-B5′

9:80843698

82% LINE/L1 and 14% SINE/Alu

B3′-C5′

9:80849462

59% LINE/L1

C3′-D5′

9:80849760

63% LINE/L1

D3′-E5′

9:80859678

86% LINE/L1

P4

A3′-B5′

X:17793009

B3′-C5′

X:18074005

C3′-D5′

X:18248955

41% SINE/Alu

D3′-E5′

X:18532312

  1. aRefers to genomic segments as shown in Fig. 1. Repetitive elements, identified using RepeatMasker, represent the percentage of repetitive sequence for a 300 bp region of reference sequence flanking the breakpoint, as specified element: class/family