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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