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Table 4 Validation of single nucleotide variants

From: Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data

Sample rs140952426 rs200757797
Uncut (A) Cut (G) Proportion A (95 % CI) From exome Uncut (T) Cut (C) Proportion T (95 % CI) From exome
NA07056 60 41 0.59 (0.49-0.69) AAGG 3 84 0.03 (0.01-0.10) CCCC
NA12044 4 74 0.05 (0.01-0.13) GGGG 18 53 0.25 (0.16-0.37) CCCT
NA18956 44 123 0.26 (0.20-0.34) AGGG - - - CCCC
NA12004 37 139 0.21 (0.15-0.28) AGGG - - - CCCC
NA12156 13 146 0.08 (0.04-0.14) AGGGG - - - CCCCC
NA07357 - - - GGGGGG 5 79 0.06 (0.02-0.13) CCCCCT
NA12763 - - - GGGG 22 178 0.11 (0.07-0.16) CCCTa
NA12874 - - - GGGG 16 52 0.23 (0.14-0.35) CCCT
  1. 95 % confidence intervals of the binomial distribution calculated using the Pearson-Klopper method
  2. aCalled as 6 copies by previous PRT
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