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).

Talseth-Palmer et al.

Talseth-Palmer et al. BMC Medical Genomics 2013 6:10   doi:10.1186/1755-8794-6-10

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