Table 2. Chromosomal regions harbouring large (>500 kb) CNVs overlapping annotated gene exons in at least two TS cases and not in controls.

Location	CNV Typea	Start positionb	End position	Size	# of markers	Gene(s)	Figure
2p22.3	Dup	32,487,194	33,186,442	699,249	145	BIRC6,TTC27,LTBP1	S4–4
	Dup	32,487,194	33,174,461	687,268	134	BIRC6,TTC27,LTBP1	S4–5
3q12.1	Dup	100,269,291	100,876,782	607,492	105	COL8A1	S4–9
	Dup	100,269,291	100,886,715	617,425	113	COL8A1	S4–10
	Dup	100,269,291	100,886,715	617,425	108	COL8A1	S4–11
	Dup	100,249,016	100,886,715	637,700	105	COL8A1	S4–12
5q21.1	Dup	101,503,405	102,033,686	530,282	66	SLCO4C1,SLCO6A1	S4–21
	Dup	101,532,676	102,033,686	501,011	70	SLCO4C1,SLCO6A1	S4–22

^aDup = duplication;

^bBased on build 36 of the human genome.