Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients

Table 5 Unique CNV burden

Sample group	Total CNV length	Average length of CNVs	Number of CNV’s
96 LS/HNPCC vs. 384 Controls	p ≤ 0.0001	p ≤ 0.0001	p ≤ 0.0001
96 LS/HNPCC proband
Mean (95% CI)	3.3 Mb (2.5-4.1 Mb)	33.3 kb (31.2-35.4 kb)	84 (68–100)
384 Controls
Mean (95% CI)	392.3 kb (323.2-461.3 kb)	23.4 kb (22.3-24.4 kb)	14 (12–16)
60 MMR + vs. 36 MMR- LS/HNPCC	p = 0.0597	p = 0.9115	p = 0.0007
60 MMR + LS/HNPCC probands
Mean (95% CI)	2.8 Mb (1.7-3.8 Mb)	33.2 kb (30.2-36.2 kb)	64 (44–83)
36 MMR- LS/HNPCC probands
Mean (95% CI)	4.3 Mb (3.1-5.5 Mb)	33.4 kb (30.9-36.0 kb)	117 (93–140)

Nexus output analysis of unique CNV burden; total length of CNV’s, average length of CNV’s and number of CNV’s in HNPCC patients (n = 96) vs. Controls (n = 384) and between MMR + individuals (n = 60) vs. MMR- individuals (n = 36).

ISSN: 1755-8794