Types of DNA variant: structural variation

Rearrangements of large sections of DNA are known as structural variants, and can have a big impact on your health.

 

The human genome is made up of billions of units (nucleotides) of DNA packaged into chromosomes.

Changes in your DNA, known as variants, can make a big difference to your health. These variants can affect only one or a few DNA units, or they can be much larger. 

Large variants are known as structural variations, and often involve rearrangements of a large region of a chromosome. These types of variation are known to cause a number of genetic conditions, like polycystic kidney disease (PKD), haemophilia, and some types of intellectual disability. 

There are five main types of structural variation:genomics_illo_structvar_community.png

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Kinghorn Centre for Clinical Genomics, August 2018. 
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