Comparison between human and rhesus macaque CNVs and enrichment of genic CNVs in rhesus macaques. (a) Size distribution and summary statistics of the observed CNVs. The frequency distribution of CNV sizes. CNVs that are larger than 300 kb were omitted from the graph. The red and blue bins show the frequency distribution of the CNV sizes observed in this study and in Lee et al. , respectively. Note the overall increase in the frequency of detected CNVs in this study. (b) The size distributions of human and macaque CNVs are similar (that is, as the frequency increases, the size gets smaller). However, the human CNVs were identified with a higher resolution platform and so there are smaller human CNVs detected compared to rhesus macaque. (c) The overlap with genomic components, such as repeats and segmental duplications, are similar for human and macaque CNVs. However, rhesus macaque CNVs are much more likely than human CNVs to overlap with genes. (d) As observed in humans, most of the rhesus macaque CNVs that overlap with genes are gains or multi-allelic CNVs. Note the dramatic increase in the ratio of genic CNVs.
Gokcumen et al. Genome Biology 2011 12:R52 doi:10.1186/gb-2011-12-5-r52