Table 1.

Rare CNVs identified in 12 patients with skeletal fragility.

chr	Start*	Stop*	Size (bp)	CNV	# Probes	Gene	Location	Outcome	Patient's gender	Clinical information
1	212761003	212762859	1856	del	4	ATF3	Intronic	Likely benign	M	Susceptibility to fractures
1	237592436	237598912	6476	del	11	RYR2	Intronic	Likely benign	M	Susceptibility to fractures
2	214386320	214409233	22913	del	31	SPAG16	Intronic	Likely benign	M	Susceptibility to fractures
3	11440479	11462041	21562	del	16	ATG7	Intronic	Likely benign	M	Susceptibility to fractures
5	11439519	11443819	4300	del	7	CTNND2	Intronic	Likely benign	M (A)	Susceptibility to fractures
7	108058010	108069358	11348	del	17	NRCAM	Intronic	Likely benign	M (B)	Susceptibility to fractures
7	147887539	147898084	10545	del	15	CNTNAP2	Intronic	Likely benign	M	Susceptibility to fractures
7	12878014	14503169	1625155	del	52	ETV1, DGKB	Exonic	Uncertain clinical significance	M (B)	Susceptibility to fractures
11	47722207	47728816	6609	del	13	AGBL2	Exonic	Uncertain clinical significance	M	Susceptibility to fractures
11	108233815	108240487	6672	dup	34	ATM	Exonic	Uncertain clinical significance	M	Susceptibility to fractures
14	75383413	75465561	82148	del	5	RPS6KL1, PGF	Exonic	uncertain clinical significance	M	Susceptibility to fractures
17	62025315	62026930	1615	del	6	SCN4A	Exonic	Uncertain clinical significance	M (A)	Susceptibility to fractures
7	94024366	94028364	3998	del	9	COL1A2	Exonic	Pathogenic	M	Primary osteoporosis
X	114848591	114859994	11403	dup	28	PLS3	Exonic	Likely pathogenic	M	Primary osteoporosis

^*Coordinates given in GRCh37; chr, chromosome; del, deletion; dup, duplication (A) and (B) indicates, respectively, the two patients both having two rare CNVs.