Copy number variations

What are the mathematical principles that can be employed in copy number variation detection and algorithms?

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Copy number variations (CNVs) are the gains or losses of genomic regions which range from 500 bases upwards in size. Whole-genome studies have revealed the presence of large numbers of CNV regions in human and a broad range of genetic diversity among the general population. CNVs have been the focus of many recent studies because of their roles in human genetic disorders.

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