Table 2. Global burden of 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 rare CNVs
Total	2275	1471			751			682
Deletion	1184	845			431
Duplication	1091	626			320			293
Number of rare CNVs per sample
Total	1.39	2.12	1.53	<1.0 × 10−6	2.24	1.61	<1.0 × 10−6	2.01	1.45	<1.0 × 10−6
Deletion	0.72	1.22	1.69	<1.0 × 10−6	1.28	1.78	<1.0 × 10−6	1.14	1.59	<1.0 × 10−6
Duplication	0.66	0.90	1.36	2.0 × 10−6	0.95	1.43	0.00003	0.86	1.30	0.0003
Proportion of samples with one or more rare CNVs
Total	0.74	0.80	1.08	0.001	0.80	1.09	0.007	0.79	1.07	0.02
Deletion	0.49	0.58	1.17	0.00009	0.59	1.19	0.0009	0.56	1.14	0.01
Duplication	0.47	0.51	1.09	0.03	0.49	1.04	0.30	0.54	1.15	0.01
Total length of rare CNVs spanned per sample (in kb)
Total	234.70	258.40	1.10	0.53	251.40	1.07	0.23	265.50	1.13	0.10
Deletion	139.70	157.30	1.13	0.57	171.90	1.23	0.11	141.20	1.01	0.41
Duplication	221.90	224.50	1.01	0.58	206.40	0.93	0.74	243.10	1.10	0.19

^*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.