How do copy-number variants arise? Do they account for more polymorphism than SNPs within the human population?

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1. Copy-number variants (CNVs) arise through structural changes in the genome, such as duplications or deletions of large segments of DNA.
2. These structural changes can occur due to errors during DNA replication or through mechanisms like unequal crossing over during meiosis.
3. CNVs can lead to variations in the number of copies of a particular gene or genomic region, which can affect gene expression and phenotypic traits.
4. Single nucleotide polymorphisms (SNPs) are variations at a single nucleotide position in the DNA sequence, and they are the most common type of genetic variation.
5. While SNPs are more numerous, CNVs can account for a larger proportion of genetic variation in terms of the amount of DNA affected, potentially having a greater impact on phenotypic diversity within the human population.

Key Concepts

Copy-Number Variants (CNVs)

Copy-number variants are segments of DNA that vary in the number of copies among individuals in a population. These variations can result from duplications or deletions of genomic regions and can influence gene dosage, potentially affecting phenotypic traits and susceptibility to diseases.

Single Nucleotide Polymorphisms (SNPs)

Single nucleotide polymorphisms are the most common type of genetic variation among individuals, involving a change in a single nucleotide at a specific position in the genome. SNPs can affect gene function and contribute to individual differences in traits, but they typically represent smaller variations compared to CNVs.

Genetic Polymorphism

Genetic polymorphism refers to the occurrence of two or more genetically distinct forms within a population. Both CNVs and SNPs contribute to genetic diversity, but studies suggest that CNVs may account for a greater proportion of this diversity due to their larger size and potential impact on gene expression and function.