What does "copy number variant" refer to?

"Copy number variant" refers specifically to the differences in the number of copies of particular genes or genomic regions present in an individual's genome compared to others. These variants can manifest as duplications or deletions of segments of DNA and can lead to significant genetic diversity among individuals within a population. Such variations can affect gene dosage and subsequently influence phenotypic traits, disease susceptibility, and other biological characteristics.

This definition highlights the biological relevance of copy number variants and their implications in genetics and genomics. Understanding these variants is crucial for studies in personalized medicine, as they can impact drug responses and contribute to complex traits and diseases.