CNVs databases


chromosomeDue to the amount and complexity of information relating to Copy Number Variations (CNVs), the scientific community felt the need to organize all available data, and future submissions, into open-source online repositories. Luckily, some of these resources are reciprocally synchronized, so that conflicting information is reduced to the minimum. The most important CNVs databases are:


This database is managed by the NCBI and contains CNVs of humans and other species. Both neutral and pathogenic CNVs larger than 50bp are included. dbVar is synchronized with DGVa. Read more >>>


This database is operated by the European Bioinformatic Institute (EIB) and is synchronized with dbVar. Go to database >>>


This database is maintained by the Canadian Centre for Applied Genomics and contains only human non-pathogenic CNVs larger than 50 bp. DGV is now fed exclusively with data coming from dbVar and DGVa. Read more >>>


This database is managed by the Wellcome Trust Sanger Institute (UK). It contains pathogenic CNVs in humans (up to know more than 27,000 pathogenic CNVs relating to more than 51,000 pathological phenotypes are listed). Read more >>>


The ISCA database (International Standards for Cytogenomic Arrays) contains pathogenic, likely pathogenic, uncertain, likely benign, and benign CNVs that have been assessed by the ISCA Committee. Simple and easy to use. Go to database >>>


ECARUCA (European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations) is made to list clinical and cytogenetic information on rare chromosomal imbalances, including microdeletions and microduplications syndromes. Go to database >>>


CNVD (Copy Number Variation in Disease – Harbin Medical University, China) is manually curated from experimental data published in CNV-related articles. The current release of CNVD incorporates more than 180,000 CNVs. Go to database >>>

Disease-specific databases

Some CNVs database are disorder-specific: see for instance the SFARI database for CNVs (and also other mutations) in autism spectrum disorders. CNVs in autism are curated also by the Autism Chromosome Rearrangment Database (hosted by the Centre for Applied Genomics of the SickKids, Canada).

All mutations databases (SNVs + CNVs)

It is useful to remind that CNVs may be incorporated also in larger databases where also single nucleotide variants and other smaller mutations are listed. ClinVar, for instance, contains both SNVs (Single Nucleotide Variations) and CNVs.

For references please go to the parent page of this chapter:

Your opinion matters. How do you rate your experience with the above mentioned databases? Please rate:

[yasr_visitor_multiset setid=0]


Leave a Reply

Your email address will not be published. Required fields are marked *

Feel free to call us to book your appointment



Enter Email
Confirm Email

Subscribe to our newsletter to receive news on the world of genetics.

We regularly send specific information for Patients and Professionals with updates and news.
No Spam, that's information.

Newsletter Signup

Newsletter Signup