DESCRIPTION:dbSNP contains human single nucleotide variations, microsatellites, and small-scale insertions and deletions along with publication, population frequency, molecular consequence, and genomic and RefSeq mapping information for both common variations and clinical mutations.
CITATION:Sherry, S. T., Ward, M. H., Kholodov, M., Baker, J., Phan, L., Smigielski, E. M., & Sirotkin, K. (2001). dbSNP: the NCBI database of genetic variation. Nucleic acids research, 29(1), 308-311.
DESCRIPTION:dbVar is NCBI's database of human genomic Structural Variation — large variants >50 bp including insertions, deletions, duplications, inversions, mobile elements, translocations, and complex variants
CITATION:Lappalainen, I., Lopez, J., Skipper, L., Hefferon, T., Spalding, J. D., Garner, J., ... & Church, D. M. (2012). DbVar and DGVa: public archives for genomic structural variation. Nucleic acids research, 41(D1), D936-D941.
DGVa -> eva
URL: https://www.ebi.ac.uk/dgva/
URL: https://www.ebi.ac.uk/eva/
DESCRIPTION:The European Variation Archive is an open-access database of all types of genetic variation data from all species.
CITATION:Lappalainen, I., Lopez, J., Skipper, L., Hefferon, T., Spalding, J. D., Garner, J., ... & Church, D. M. (2012). DbVar and DGVa: public archives for genomic structural variation. Nucleic acids research, 41(D1), D936-D941.
DESCRIPTION:The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
CITATION:Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., ... & MacArthur, D. G. (2020). The mutational constraint spectrum quantified from variation in 141,456 humans. Nature, 581(7809), 434-443.
ClinVar
DESCRIPTION:ClinVar aggregates information about genomic variation and its relationship to human health.
CITATION:Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M., & Maglott, D. R. (2014). ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic acids research, 42(D1), D980-D985.
DESCRIPTION:An Online Catalog of Human Genes and Genetic Disorders
CITATION:Hamosh, A., Scott, A. F., Amberger, J. S., Bocchini, C. A., & McKusick, V. A. (2005). Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic acids research, 33(suppl_1), D514-D517.
DESCRIPTION: A web server suited for the functional assessment of CNVs in a clinical diagnostic setting.
CITATION: Requena, Francisco, et al. "CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients." Nucleic Acids Research 49.W1 (2021): W93-W103.