Nature of Genetic Variation

genome.ucsc.edu/cgi-bin/hgGateway
www.ensembl.org/Homo_sapiens/Info/IndexThe Single Nucleotide Polymorphism Database (dbSNP) and the Structural Variation Database (dbVar) are databases of small-scale and large-scale variations, including single nucleotide variants, microsatellites, indels, and CNVs.www.ncbi.nlm.nih.gov/snp/
www.ncbi.nlm.nih.gov/dbvar/The 1000 Genomes Project is sequencing the genomes of a large number of individuals to provide a comprehensive resource on genetic variation in our species. All data are publicly available.www.1000genomes.orgThe Human Gene Mutation Database is a comprehensive collection of germline mutations associated with or causing human inherited disease (currently including over 120,000 mutations in 4400 genes).www.hgmd.orgThe Database of Genomic Variants is a curated catalogue of structural variation in the human genome. As of 2012, the database contains over 400,000 entries, including over 200,000 CNVs, 1000 inversions, and 34,000 indels.dgv.tcag.caThe Japanese Single Nucleotide Polymorphisms Database (JSNP Database) reports SNPs discovered as part of the Millennium Genome Project.snp.ims.u-tokyo.ac.jp/


CNV, Copy number variant; SNP, single nucleotide polymorphism.


Updated from Willard HF: The human genome: a window on human genetics, biology and medicine. In Ginsburg GS, Willard HF, editors: Genomic and personalized medicine, ed 2, New York, 2013, Elsevier.



Mutations are sometimes classified by the size of the altered DNA sequence and, at other times, by the functional effect of the mutation on gene expression. Although classification by size is somewhat arbitrary, it can be helpful conceptually to distinguish among mutations at three different levels:



Mutations that leave chromosomes intact but change the number of chromosomes in a cell (chromosome mutations)


Mutations that change only a portion of a chromosome and might involve a change in the copy number of a subchromosomal segment or a structural rearrangement involving parts of one or more chromosomes (regional or subchromosomal mutations)


Alterations of the sequence of DNA, involving the substitution, deletion, or insertion of DNA, ranging from a single nucleotide up to an arbitrarily set limit of approximately 100 kb (gene or DNA mutations)

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Nov 27, 2016 | Posted by in GENERAL & FAMILY MEDICINE | Comments Off on Nature of Genetic Variation
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