# Copy Number Variation: Methods and Clinical Applications
## 5 Conclusions
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\begin{tabular}{p{113.8 pt} p{113.8 pt} p{113.8 pt}} \hline \hline
**Database** & **Abbreviation** & **Description** & **Link** \\ \hline ClinVar & ClinVar & A freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. & [[http://www.ncbi.nlm.nih.gov/clinvar/](http://www.ncbi.nlm.nih.gov/clinvar/)]([http://www.ncbi.nlm.nih.gov/clinvar/](http://www.ncbi.nlm.nih.gov/clinvar/)) \\ \hline Database of genomic structural variation & dbVar & NCBI’s database of human genomic structural variations with size \(>\)50 bp including insertions, deletions, duplications, inversions, mobile elements, translocations, and complex variants. & [[https://www.ncbi.nlm.nih.gov/dbvar/](https://www.ncbi.nlm.nih.gov/dbvar/)]([https://www.ncbi.nlm.nih.gov/dbvar/](https://www.ncbi.nlm.nih.gov/dbvar/)) \\ \hline Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources & DECIPHER & An interactive web-based database, which incorporates a suite of tools designed to aid the interpretation of genomic variants. & [[https://decipher.sanger.ac.uk](https://decipher.sanger.ac.uk)]([https://decipher.sanger.ac.uk](https://decipher.sanger.ac.uk)) \\ \hline Database of Genomic Variants & DGV & The database only contains structural variants identified in healthy control samples. & [[http://dgv.tcdag.ca/dgv/app/home](http://dgv.tcdag.ca/dgv/app/home)]([http://dgv.tcdag.ca/dgv/app/home](http://dgv.tcdag.ca/dgv/app/home)) \\ \hline The Genome Aggregation Database & gnomAD-SV & An open resource of structural variation for medical and population genetics. The gnomAD structural variant (SV) callset is available via the gnomAD website and integrated directly into the gnomAD Browser. & [[https://gnomad.broadinstitute.org](https://gnomad.broadinstitute.org)]([https://gnomad.broadinstitute.org](https://gnomad.broadinstitute.org)) \\ \hline Catalogue of Somatic Mutations in Cancer & COSMIC & The world’s largest source of expert manually curated somatic mutation information relating to human cancers. The database combines two main types of data: manually curated high precision data and genome-wide screen data, which provide extensive coverage of the cancer genomic landscape from a somatic perspective. & [[https://cancers.sanger.ac.uk/cosmic](https://cancers.sanger.ac.uk/cosmic)]([https://cancers.sanger.ac.uk/cosmic](https://cancers.sanger.ac.uk/cosmic)) \\ \hline The International Genome Sample Resource & IGSR & The International Genome Sample Resource (IGSR) was established to ensure ongoing usability of data generated by the 1000 Genomes Project and to extend the data set. & https://www. internationalgenome.org/home \\ \hline Autism Chromosome Rearrangement Database & ACRD & A collection of hand curated breakpoints and other genomic features related to autism, taken from publicly available literature, databases and unpublished data. The database is continuously updated with information from in-house experimental data as well as data from published research studies. & [[http://projects.tcdag.ca/autism/](http://projects.tcdag.ca/autism/)]([http://projects.tcdag.ca/autism/](http://projects.tcdag.ca/autism/)) \\ \hline The Chromosome Anomaly Collection & NA & This collection contains examples of unbalanced chromosome abnormalities without phenotypic effect. & [[http://www.ngrl.org.uk/wessex/collection/index.htm](http://www.ngrl.org.uk/wessex/collection/index.htm)]([http://www.ngrl.org.uk/wessex/collection/index.htm](http://www.ngrl.org.uk/wessex/collection/index.htm)) \\ \hline Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer & NA & The information in the database relates cytogenetic changes and their genomic consequences, in particular gene fusions, to tumor characteristics, based either on individual cases or associations. & [[https://mitelmandatabase.isb-cgc.org](https://mitelmandatabase.isb-cgc.org)]([https://mitelmandatabase.isb-cgc.org](https://mitelmandatabase.isb-cgc.org)) \\ \hline \hline \end{tabular}
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