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(a)
Right side of chromosomal ideograms: red line indicates deletion;
blue=insertion; yellow=inversion breakpoint; the double length indicates SV
observed in both individuals. Left side of ideogram: the line lengths
indicate size of event in log-scale (events ≥1 Mb are drawn at same length,
corresponding to the line indicated to the right (‘Scale’); unmated
insertions are indicated at a length corresponding to 1 kb); line colors
indicate predominant repetitive sequences in ±3 kb window of the predicted
breakpoint junction (according to numbers/ occurrences of elements annotated
in
http://humanparalogy.gs.washington.edu (SDs) and
www.repeatmasker.org): red=SDs; blue=LINEs; yellow=LTRs;
green=Microsatellites; black=two or more repetitive elements with equal
frequency; gray: no repeat association.
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