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

TAR del

+

TAR dup

–

1q21.1 del

–

–

–

–

–

1q21.1 dup

+

+

+

+

+

NRXN1 del

+

+

–

+

–

–

+

2q11.2 del

+

+

+

+

+

2q13 del

+

+

–

+

–

2q13 dup

–

–

–

–

2q13dup NPHP1

–

2q21.1 dup

–

3q29 del

–

–

+

+

3q29 dup

+

+

+

WBS dup

–

–

+

+

7q11.23dup distal

+

–

13q12.12 dup

–

–

–

13q12del CRYL1

+

15q11.2 del

–

+

+

+

–

+

+

15q11.2 dup

+

–

+

PWS dup

–

–

+

15q11q13 del BP3 BP4

+

–

15q11q13 dup BP3 BP4

+

15q13.3 del

+

–

+

15q13.3 dup

–

–

+

+

+

15q13.3 del CHRNA7

–

15q24 dup

+

+

16p11.2 del

+

–

+

–

+

+

–

+

16p11.2 dup

+

–

–

–

–

–

16p11.2 distal del

+

+

+

+

16p11.2 distal dup

–

–

–

–

–

–

–

16p12.1 del

+

–

+

–

+

+

–

+

16p12.1 dup

–

16p13.11 del

–

–

16p13.11 dup

+

+

+

+

–

+

+

17p12del HNPP

–

+

+

17p12dup CMT1A

–

–

+

–

–

–

Potocki Lupski

–

–

+

17q12 del

–

+

17q12 dup

–

22q11.2 del

–

–

+

+

–

–

+

22q11.2 dup

+

–

+

–

+

+