Genetic variant

Genetic variant

A genetic variant (pronunciation: /dʒɪˈnɛtɪk ˈveərɪənt/) is a difference in the sequence of DNA in the genome of an individual or a population compared to a reference sequence.

Etymology

The term "genetic variant" is derived from the word "genetic", which comes from the Greek word "genetikos" meaning "genitive" and "variant" which originates from the Latin word "variare" meaning "to change".

Types of Genetic Variants

There are several types of genetic variants, including:

• Single nucleotide polymorphism (SNP): A variation in a single base pair in a DNA sequence.
• Copy number variation (CNV): A phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals.
• Structural variation (SV): A region of DNA approximately 1kb and larger in size and can include inversions and balanced translocations or genomic imbalances (insertions and deletions).

Related Terms

• Genome: The complete set of genes or genetic material present in a cell or organism.
• DNA: Deoxyribonucleic acid, a self-replicating material which is present in nearly all living organisms as the main constituent of chromosomes. It is the carrier of genetic information.
• Gene: A unit of heredity which is transferred from a parent to offspring and is held to determine some characteristic of the offspring.
• Mutation: The changing of the structure of a gene, resulting in a variant form that may be transmitted to subsequent generations.

External links

• Medical encyclopedia article on Genetic variant
• Wikipedia's article - Genetic variant

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