Table 4

CNV burden
Sample group Total CNV length Average CNV length of CNVs Number of CNV’s
Software Nexus QuantiSNP Nexus QuantiSNP Nexus QuantiSNP
HNPCC vs. Controls p= 0.0006 p= 0.0001 p= 0.0044 p≤ 0.0001 p≤ 0.0001 p = 0.8981
96 LS/HNPCC probands
Mean (95% CI) 31.2 Mb (15.4 – 46.9 Mb) 1.4 Mb (1.2-1.7 Mb) 82.5 kb (68.5-96.5 kb) 87.8 kb (75.0-100.6 kb) 233 (186–281) 16 (14–17)
384 Healthy controls
3.1 Mb (2.7-3.6 Mb ) 900 kb (847–953 Kb) 61.7 kb (59,6-63,7 kb) 56.9 kb (53.7-60.2 kb) 50 (46–54) 16 (15–16)
Mean (95% CI)
60 MMR + vs. 36 MMR- p = 0.8630 p = 0.6355 p = 0.6302 p= 0.0069 p = 0.0509 p= 0.0021
60 MMR + LS probands
Mean (95% CI) 30.0 Mb (11.7-48.3 Mb) 1.4 Mb (1.0-1.7 Mb) 85.3 kb (68.7-101.8 kb) 72.4 kb (61.0-83.4 kb) 199 (135–264) 17 (15–19)
36 MMR- HNPCC probands
Mean (95% CI) 33.0 Mb (2.9-63.1 Mb) 1.5 Mb (1.1-1.9 Mb) 77.9 kb (51.6-104.1 kb) 11.3 kb (86.2-140.6 kb) 290 (224–356) 13 (11–14)

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

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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