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In the human genome project the human genome was successfully sequenced, which provided a reference human genome for comparison of genetic variation. With improving sequencing technologies and the reference genome, more and more variations were found of several different sizes that were larger than 1 kb but smaller than microscopic variants.
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.
Some structural variants are associated with genetic diseases, however most are not. [3] [4] Approximately 13% of the human genome is defined as structurally variant in the normal population, and there are at least 240 genes that exist as homozygous deletion polymorphisms in human populations, suggesting these genes are dispensable in humans. [4]
The human genome was the first of all vertebrates to be sequenced to such near-completion, and as of 2018, the diploid genomes of over a million individual humans had been determined using next-generation sequencing. [61] These data are used worldwide in biomedical science, anthropology, forensics and other branches of science.
It shows 22 homologous autosomal chromosome pairs, both the female (XX) and male (XY) versions of the two sex chromosomes, as well as the mitochondrial genome (at bottom left). In genetics , a chromosomal rearrangement is a mutation that is a type of chromosome abnormality involving a change in the structure of the native chromosome . [ 1 ]
The Human Genome Project was a landmark genome project. There are numerous related projects that deal with genetic variation (or variation in the encoded proteins), e.g. organized by the following organizations: HUman Genome Organisation (HUGO) -- organizes activities around human genome sequencing, including variants; Human Genome Variation ...
Approximately two-thirds of the entire human genome may be composed of repeats [3] and 4.8–9.5% of the human genome can be classified as copy number variations. [4] In mammals, copy number variations play an important role in generating necessary variation in the population as well as disease phenotype. [1]
The human Y chromosome contains the greatest proportion of duplicated sequence within the human genome at 50.4%. [3] The majority of the chromosome (41Mb out of 63Mb) is made up of three blocks of highly reiterated satellites and other repeats. The other 22Mb euchromatin region also has a unique genetic structure with large gene-rich ...