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Structural variation is an important type of human genetic variation that contributes to phenotypic diversity. [2] There are microscopic and submicroscopic structural variants which include deletions, duplications, and large copy number variants as well as insertions, inversions, and translocations. [1]
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.
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 ...
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 new human pangenome reference integrates the missing 8% of the human genome sequence, adding over 100 million new bases. It aims to capture more population diversity than the previous reference sequence and is based on 94 high-quality haploid assemblies from individuals with broad genetic diversity.
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.
Genomics is an interdisciplinary field of molecular biology focusing on the structure, function, evolution, mapping, and editing of genomes.A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dimensional structural configuration.
Human genome projects are scientific endeavors that determine or study the structure of the human genome. 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:
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