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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.
Some of genome browsers and bioinformatic databases have a list of structural variations in human genome with an emphasis on CNVs, and can show them in the genome browsing page, for example, UCSC Genome Browser. [27] Under the page viewing a part of the genome, there are "Common Cell CNVs" and "Structural Var" which can be enabled.
Since the completion of the Human Genome Project advances in human population genetics and comparative genomics enabled further insight into genetic diversity. [7] The understanding about structural variations (insertions/deletions (), copy number variations (CNV), retroelements), single-nucleotide polymorphisms (SNPs), and natural selection were being solidified.
A large-scale collaborative effort to catalog SNP variations in the human genome is being undertaken by the International HapMap Project. [citation needed] The genomic loci and length of certain types of small repetitive sequences are highly variable from person to person, which is the basis of DNA fingerprinting and DNA paternity testing ...
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 ]
Copy number variation is a type of structural variation: specifically, it is a type of duplication or deletion event that affects a considerable number of base pairs. [2] 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]
The DNA sequence assembly alone is of little value without additional analysis. [9] Genome annotation is the process of attaching biological information to sequences, and consists of three main steps: [68] identifying portions of the genome that do not code for proteins; identifying elements on the genome, a process called gene prediction, and
Comparative genomics also opens up new avenues in other areas of research. As DNA sequencing technology has become more accessible, the number of sequenced genomes has grown. With the increasing reservoir of available genomic data, the potency of comparative genomic inference has grown as well.