Copy number variation (CNV) is a genetic phenomenon where the number of copies of a specific DNA segment varies among individuals.
Understanding Copy Number Variation (CNV)
CNV essentially refers to differences in the amount of DNA present in different people's genomes. Instead of everyone having exactly two copies of each gene (one from each parent), some people might have more or fewer copies of certain DNA segments. These segments can range in size from short stretches to thousands of base pairs.
Key Aspects of CNV
- Definition: According to the provided reference, copy number variation (abbreviated CNV) refers to a circumstance in which the number of copies of a specific segment of DNA varies among different individuals' genomes.
- Variability: The key feature is that the number of copies isn't fixed across the population.
- Size Range: CNVs can be small or very large, encompassing many genes.
- Impact: CNVs can influence an individual's traits and disease susceptibility.
Examples of CNV Implications
CNVs can have diverse effects depending on which genes are affected and how many copies are gained or lost.
- Increased expression of genes within a duplicated region.
- Decreased expression of genes within a deleted region.
- Disruption of gene function if a CNV breaks a gene sequence.
- No noticeable effect if the CNV occurs in a non-coding region or involves genes with redundant functions.
CNV Summary
In summary, CNV is a fundamental type of genetic variation impacting the number of copies of particular DNA sequences in an individual's genome.
