NDDSCZ Part 1

3 Types of Genetic Variation

Overview

• Genetic variation is essential for the diversity of traits in populations.

• There are three primary types of genetic variations: Common Variation, Copy Number Variants (CNVs), and Single Nucleotide Variants (SNVs).

Common Variation

• Common variation refers to variations in DNA that are prevalent in a population.

• Commonly detected through genomic studies, especially Genome Wide Association Studies (GWAS).

Key Features

• Detection: Identified through sequence markers or Single Nucleotide Polymorphisms (SNPs).

• Identification: GWAS helps identify genomic regions, known as loci, which are associated with increased risk for certain traits or diseases.

• Genomic Regions: The identified loci are not necessarily related to specific genes; instead, they are genetic markers that may exist outside of coding sequences, with exceptions such as SNVs.

Copy Number Variants (CNV)

• CNVs are structural variations in the genome that result in the duplication or deletion of segments of DNA.

• These can contribute to phenotypic diversity and susceptibility to disease.

Single Nucleotide Variants (SNV)

• SNVs are the most common type of genetic variation and involve changes at a single nucleotide position in the DNA.

• SNVs can directly influence gene function and contribute to disease risk.