CNV Project at the Wellcome Sanger Institute

Copy Number Variation (CNV) Project

Investigates gains and losses of large chunks of DNA sequence to understand the contribution of CNV to the common, complex diseases.

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This page is maintained as a historical record and is no longer being updated.

Archive Page – this page is maintained as a historical archive and is no longer being updated

Matt Hurles, Genome Research Limited
Genetic diseases are caused by mutations in DNA sequences. The Copy Number Variation (CNV) Project investigates the impact on human health of CNVs – gains and losses of large chunks of DNA sequence consisting of between ten thousand and five million letters. We already know that many inherited genetic diseases result from structural mutations or CNVs; we also know that there are Copy Number Variants that protect against HIV infection and malaria. The contribution of CNV to the common, complex diseases, such as diabetes and heart disease, is currently less well understood.


Genetic mutations of any type that increase the chance of an individual developing a common disease are also likely to be found at reasonable frequencies in apparently healthy populations. A range of promising new technologies should, for the first time, allow us to scan the entire human genome for CNV in a single experiment. We are comparing these new technologies for screening hundreds of apparently healthy individuals for CNV.

Using these technologies we are characterising functionally-relevant CNVs at as high resolution as possible, incorporating these variants within association studies for complex diseases, and developing a public resource to facilitate integration of CNV within medical genetic studies.

The copy number variation project draws upon expertise present in several different groups at the Sanger Institute, including: new sequencing technologies, microarray-based analyses, cytogenetics, population genetics, comparative genomics and bioinformatics.

In addition, we have established an international consortium to enable us to achieve our objectives. Together with Charles Lee (Harvard Medical School) and Steve Scherer (Hospital for Sick Kids, Toronto) we are working closely with the developers of leading edge commercial platforms to optimise technologies capable of revealing copy number variation at the highest resolution.

The questions that drive our research are:

  • How much copy number variation (CNV) exists between human genomes?
  • How best can CNVs be incorporated into whole genome association studies?
  • What is the contribution of copy number variation to genetic disease?
  • What is the relative contribution of different mutational mechanisms to CNV?
  • What is the genomic impact of CNV on gene expression?
  • What role has copy number variation played in recent human evolution?


  • For enquiries about the CNV project, please email
  • Project data and data release – For questions about project data and data release, please contact Nigel Carter or Matt Hurles


If you need help or have any queries, please contact us using the details below.

Sanger people

Photo of Professor Matthew Hurles

Professor Matthew Hurles

Director the Wellcome Sanger Institute and Senior Group Leader