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:
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