Table 2.

CNVs with significant associations at FDR = 0.1 for physical traits. “+” or “-” indicate the direction of the change. Fat % indicates a significant change on any one of arm, leg or trunk fat % measurements. The last column shows the average absolute difference (normalised coefficients from linear regression) of the 16 tests for each CNV

CNV	Weight	Height	BMI	Hand grip strength	Fat %	Pulse rate	BP	Peak expiratory flow	Heel bone mineral density	Waist/hip ratio	Average difference (B)
TAR del						+					0.37
TAR dup									–		0.24
1q21.1 del	–	–		–				–	–		0.65
1q21.1 dup	+	+			+	+				+	0.24
NRXN1 del	+		+	–	+			–	–	+	0.25
2q11.2 del	+		+		+				+	+	0.75
2q13 del	+		+	–	+			–			0.52
2q13 dup	–	–	–					–			0.38
2q13dup NPHP1				–							0.04
2q21.1 dup				–							0.20
3q29 del		–		–		+	+				0.99
3q29 dup	+		+		+						1.77
WBS dup				–				–	+	+	1.12
7q11.23dup distal							+	–			0.55
13q12.12 dup	–	–			–						0.17
13q12del CRYL1		+									0.12
15q11.2 del		–	+		+		+	–	+	+	0.16
15q11.2 dup			+	–	+						0.05
PWS dup				–				–		+	0.71
15q11q13 del BP3 BP4			+					–			0.83
15q11q13 dup BP3 BP4					+						0.29
15q13.3 del	+							–		+	0.50
15q13.3 dup		–		–	+	+	+				0.29
15q13.3 del CHRNA7								–			0.67
15q24 dup			+		+						0.76
16p11.2 del	+	–	+	–	+	+		–		+	1.56
16p11.2 dup		+	–	–	–		–		–		0.23
16p11.2 distal del	+		+		+					+	0.71
16p11.2 distal dup	–	–	–	–	–			–	–		0.36
16p12.1 del	+	–	+	–	+		+	–		+	0.38
16p12.1 dup					–						0.11
16p13.11 del				–				–			0.20
16p13.11 dup	+		+		+		+	–	+	+	0.16
17p12del HNPP				–		+	+				0.40
17p12dup CMT1A		–		–	+		–	–	–		0.93
Potocki Lupski		–		–	+						1.00
17q12 del				–		+					0.71
17q12 dup						–					0.25
22q11.2 del		–		–	+	+		–	–	+	1.35
22q11.2 dup	+	–	+	–	+					+	0.21