ABSTRACT There have been a great many recent studies investigating the extent of Copy Number Variation in the genomes of various species such as human, cattle, dogs and many others. The results from these studies indicate that the extent of the Copy Number Variation in the genome is considerable, and that in humans and in cattle, frequencies of different Copy Number Variants may differ in different breeds/ethnicities. This is not entirely unexpected as allele frequencies of certain loci vary with different breeds/ ethnicities/species and many known Copy Number Variants behave similarly to ordinary markers as regards Mendelian segregation. It is also well known in many instances, species/breeds/ethnicities show variation not only in marker allele frequencies, but also in the extent of Linkage Disequilibrium between markers. Thus it is worth investigating the extent of association between Copy Number Variants in different populations. In this paper we will investigate the extent of correlations between selected Copy Number Variants in different human populations and show that statistically significant correlations exist and are strongly population dependent.
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Abraham, J. and LaFramboise, T. (2012) Exploring correlations among copy number variants. Open Journal of Genetics, 2, 131-135. doi: 10.4236/ojgen.2012.23018.
 Sebat, J., Lakshmi, B., Troge, J., et al. (2004) Largescale copy number polymorphism in the human genome. Science, 316, 445-449. doi:10.1126/science.1138659
 Iafrate, A.J., Feuk, L., Rivera, M.N., et al. (2004) Detection of largescale variation in the human genome. Nature Genetics, 36, 949-951. doi:10.1038/ng1416
 Feuk, L., Carson, A.R. and Scherer, S.W. (2006) Structural variation in the human genome. Nature Review Genetics, 7, 85-97.
 Cooper, G.M., Nickerson, D.A. and Eichler, E.E. (2007) Mutational and selective effects on copy-number variants in the human genome. Nature Genetics, 39, S22-S29.
 Campbell, C.D., Sampas, N., Tsalenko, A., et al. (2011) Populationgenetic properties of differentiated human copy-number polymorphisms. American Journal of Human Genetics, 88, 317-332.
 Mills, R.E., Walter, K., Stewart, C., et al. (2011) Mapping copy number variation by population-scale genome sequencing. Nature, 470, 59-65. doi:10.1038/nature09708
 Stranger, B.E., Forrest, M.S. and Dunning, M. (2007) Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science, 315, 849-853.
 McCarroll, S.A. and Altshuler, D.M. (2007) Copy number variation and association studies of human disease. Nature Genetics, 39, S37-S42. doi:10.1038/ng2080
 George, E.L., Hou, Y.L., Zhu, B., et al. (2010) Analysis of copy number variations among diverse cattle breeds. Genome Research, 20, 693-703.
 Perry, G.H., Yang, F., Marques-Bonet, T., et al. (2008) Copy number variation and evolution in humans and chimpanzees. Genome Research, 18, 1698-1710.
 Emerson, J.J., Cardoso-Moreira, M., Borevitz, J.O. and Long, M. (2008) Natural selection shapes genome-wide patterns of copy-number polymorphism in Drosophila melanogaster. Science, 320, 1629-1631.
 McCarroll, S.A., Kuruvilla, F.G., Korn, J.M., et al. (2008) Integrated detection and population-genetic analysis of SNPs and copy number variation. Nature Genetics, 40, 1166-1174. doi:10.1038/ng.238
 Redon, R., Ishikawa, S. and Fitch, K.R. (2006) Global variation in copy number in the human genome. Nature, 444, 444-454. doi:10.1038/nature05329
 Walsh, B. (2003) Population and quantitative-genetic models of selection limits. In: Janick, J., Ed., Plant Breeding Reviews: Long Term Selection Maize: Maize, Vol. 24, Purdue University, West Lafayette.
 Shen, Y., Luche, R., Wei, B., Gordon, M.L., Diltz, C.D. and Tonks, N.K. (2001) Activation of the Jnk signaling pathway by a dual-specificity phosphatase, JSP-1. Proceedings of the National Academy of Sciences, 98, 13613-13618. doi:10.1073/pnas.231499098
 Wagner, E.F. and Nebreda, A.R. (2009) Signal integration by JNK and p38 MAPK pathways in cancer development. Nature Genetics Reviews, 9, 537-549.