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An inversion is a chromosome rearrangement in which a segment of a chromosome becomes inverted within its original position. An inversion occurs when a chromosome undergoes a two breaks within the chromosomal arm, and the segment between the two breaks inserts itself in the opposite direction in the same chromosome arm.
The number of copies of chromosomes generally correlates to the number of copies of a gene present in the genome. For example, the gene that codes for the beta-subunit of hemoglobin (HBB) is located on chromosome 11. Humans have 2 copies of chromosome 11, so they have 2 copies of the HBB gene. [3]
In the human genome, the frequency and characteristics of de novo mutations have been studied as important contextual factors to our evolution. Compared to the human reference genome, a typical human genome varies at approximately 4.1 to 5.0 million loci, and the majority of this genetic diversity is shared by nearly 0.5% of the population. [141]
Inversion was first noted in 1822 by the French zoologist Étienne Geoffroy Saint-Hilaire, when he dissected a crayfish (an arthropod) and compared it with the vertebrate body plan. The idea was heavily criticised, but periodically resurfaced, and is now supported by some molecular embryologists.
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The human genome has a total length of approximately 3.2 billion base pairs (bp) in 46 chromosomes of DNA as well as slightly under 17,000 bp DNA in cellular mitochondria. In 2015, the typical difference between an individual's genome and the reference genome was estimated at 20 million base pairs (or 0.6% of the total). [2]