Copy Number Variation in the Human Genome

Copy number variations (CNVs) are a type of structural variant that leads to changes in DNA dosage through either duplication or deletion of a genomic region. CNVs play an important role in human genetic variation; they impact more bases than single nucleotide polymorphisms (SNPs), and they are also associated with several human diseases. In this chapter, we will describe the characterization of CNVs, the mechanisms involved in their generation and the advantages and limitations of different methods for CNV detection. Additionally, we will discuss the impacts of CNVs in the human genome, considering the generation of phenotypic diversity and their role in pathological conditions. Finally, we will illustrate the investigation of CNVs in the diagnosis of human diseases using clinical case examples.