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Table 1 Substitution frequencies at the CpG dinucleotide context

From: Large-scale inference of the point mutational spectrum in human segmental duplications

Substitution context

SNPs

DIMs

Non-CpG island: (A/C)G

4.69 (14,399/307,128)

5.73 (4,320/75,433)

Non-CpG island: (C/G)G

4.65 (14,270/307,128)

6.28 (4,665/75,433)

Non-CpG island: (C/T)G

40.71 (125,040/307,128)

37.69 (28,589/75,433)

Non-CpG island: C(A/G)

40.62 (124,746/307,128)

37.91 (28,713/75,433)

Non-CpG island: C(C/G)

4.58 (14,078/307,128)

4.58 (4,765/75,433)

Non-CpG island: C(G/T

4.75 (14,595/307,128)

4.75 (4,381/75,433)

CpG island: (A/C)G

9.80 (206/2,103)

9.02 (304/3,371)

CpG island: (C/G)G

13.03 (274/2,103)

14.74 (497/3,371)

CpG island: (C/T)G

27.29 (574/2,103)

26.49 (893/3,371)

CpG island: C(A/G)

26.82 (564/2,103)

26.76 (902/3,371)

CpG island: C(C/G)

13.41 (282/2,103)

14.06 (474/3,371)

CpG island: C(G/T)

9.65 (203/2,103)

8.93 (301/3,371)

  1. Nucleotide substitution percentages at the CpG dinucleotide context are shown for intergenic DIMs and SNPs, within and outside CpG islands. The percentages of substitutions are shown along with raw counts in parentheses. Differences between islands and non-island regions for methylation-related substitutions (in boldface) are statistically significant (p < 0.00001) by Chi-square analysis.