Table 3. Global burden of genic rare CNVs between colorectal cases and controls.

Category	Controls (N = 1641)	CRC (N = 694)	Fold Change#	P value*	Colon (N = 336)	Fold Change#	P value*	Rectal (N = 340)	Fold Change#	P value*
Total number of genic CNVs
Total	1271	887			451			415
Deletion	576	449			231			207
Duplication	695	438			220			208
Number of genic CNVs per sample
Total	0.77	1.28	1.65	<1.0 × 10−6	1.34	1.73	<1.0 × 10−6	1.22	1.58	<1.0 × 10−6
Deletion	0.35	0.65	1.84	<1.0 × 10−6	0.69	1.96	<1.0 × 10−6	0.61	1.73	<1.0 × 10−6
Duplication	0.42	0.63	1.49	<1.0 × 10−6	0.65	1.55	0.00002	0.61	1.44	0.00002
Proportion of samples with one or more genic CNVs
Total	0.52	0.63	1.20	<1.0 × 10−6	0.63	1.21	0.0002	0.63	1.20	0.0003
Deletion	0.28	0.38	1.35	<1.0 × 10−6	0.40	1.45	8.0 × 10−6	0.35	1.26	0.005
Duplication	0.33	0.39	1.15	0.01	0.36	1.08	0.20	0.41	1.23	0.004
Total length of genic CNVs spanned per sample (in kb)
Total	202.30	206.60	1.02	0.40	178.30	0.88	0.83	236.70	1.17	0.11
Deletion	124.00	119.50	0.96	0.48	121.80	0.98	0.38	114.00	0.92	0.51
Duplication	213.40	220.50	1.03	0.36	175.50	0.82	0.93	263.20	1.23	0.05

^*Empirical p-values between cases and controls were calculated using 1000,000 permutations by PLINK, and all the P values were shown in bold if reached statistical significance (P < 0.05).

^#Fold change of CRC/colon/rectal cases vs controls.