Table 2

Nucleotide variation in self-self assemblies

Human

Chimpanzee

Rhesus macaque




Hom

Het

Hemi

Hom

Het

Hemi

Hom

Het

Hemi


Deletions

Frameshift

10

53

0

114

119

15

169

162

4

Amino acid loss

13

63

0

7

68

3

16

73

0

Insertions

Frameshift

13

52

4

85

83

22

128

169

6

Amino acid gain

12

42

1

5

57

1

9

62

1

MNP

Synonymous

23

34

2

22

57

5

20

77

1

Non-synonymous

79

269

2

312

571

47

245

793

9

Stop codon gain

0

7

0

1

19

2

0

25

1

Stop codon loss

1

0

0

0

2

0

0

1

0

SNP

Synonymous

4,259

8,159

206

3,204

11,549

198

8,777

14,878

233

Non-synonymous

3,618

8,336

155

3,725

12,465

346

6,158

13,252

220

Stop codon gain

8

171

2

11

286

2

34

339

3

Stop codon loss

9

7

0

2

21

0

18

20

1

Genes

Deletion frameshift

10

0

107

14

159

4

Insertion frameshift

13

4

85

21

125

6

Either

23

4

182

35

280

9

Stop codon gain

8

2

12

4

34

4

Stop codon loss

10

0

2

0

17

1

Either

18

2

14

4

51

5

Any of above

41

6

194

38

327

14


Nucleotide level variation observed in self-self assemblies. Hemi, hemizygous; Het, heterozygous; Hom, homozygous; MNP, multi-nucleotide polymorphism; SNP, single-nucleotide polymorphism.

Vallender Genome Biology 2011 12:R87   doi:10.1186/gb-2011-12-9-r87

Open Data