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CNV (copy number variation)

CNV (copy number variation) refers to a situation in which a person has multiple copies of a portion of DNA (often a gene). This can influence susceptibility to disease and other traits.

Articles using this Glossary Item


Large study finds first genes linked to Tourette's syndrome

26 June 2017 - by Cara Foley

The first genes linked Tourette's syndrome have been identified in the biggest study of the disorder to date... [Read More]

18 new genes linked to autism

13 March 2017 - by Jenny Sharpe

A study that sequenced the whole genomes of over 5000 people has discovered 18 genes associated with autism spectrum disorder (ASD)... [Read More]

Genetic study gives insight into schizophrenia

01 February 2016 - by Helen Robertson

A gene involved in managing the connections between brain cells appears to be associated with an increased risk of developing schizophrenia... [Read More]

Gene mutations can predict prostate cancer drug resistance

09 November 2015 - by Kirsty Oswald

Researchers have identified the genetic mutations that drive resistance to the hormone therapy abiraterone in patients with advanced prostate cancer... [Read More]

Ten percent of cerebral palsy cases have genetic cause

10 August 2015 - by Dr Nicola Davis

A Canadian study has found that as many as ten percent of cerebral palsy cases have a genetic cause... [Read More]

Genetics study helps explain causes of schizophrenia

08 June 2015 - by Paul Waldron

New research into schizophrenia has identified genetic mutations in patients which affect the balance between chemical signalling systems in the brain... [Read More]

Gene mutation may be behind autism subtype

21 July 2014 - by Dr Molly Godfrey

A mutation in a gene that regulates the structure of DNA has been linked to a subtype of autism... [Read More]

Obesity linked to genetic variation in carbohydrate digestion

07 April 2014 - by James Brooks

Obesity might not simply be a matter of overeating or heightened appetite but at least partially down to how we metabolise food, a study says... [Read More]

Autism study identifies extensive gene pattern

10 June 2013 - by Siobhan Chan

A large, complex gene network in people with autism has been identified by researchers at the University of Oxford... [Read More]

Cancer treatment should be based on gene 'fingerprints', says study

07 May 2013 - by Suzanne Elvidge

Genetic analysis of tumours provides the key to treating them effectively, according to two studies carried out by The Cancer Genome Atlas (TCGA).... [Read More]

Twenty-five genetic variants for autism discovered

21 January 2013 - by Dr Victoria Burchell

Rare genetic variants may have a significant impact on a person's risk of developing autism, research suggests... [Read More]

'Landmark' study could change future of breast cancer

23 April 2012 - by Dr Linda Wijlaars

Breast cancer can be reclassified into ten separate 'diseases' based on its genetic characteristics, according to scientists. Analysis of the DNA and RNA from almost 2,000 tumours identified ten genetically different subtypes of breast cancer with different survival outcomes. The information could be used to better predict the outcomes of the disease, as well as offer tailored treatment to patients... [Read More]

Short people 'short' on genes

28 November 2011 - by Dr Rebecca Hill

Short people can blame deleted sections of DNA for their diminutive stature, according to a study looking at variations in the genomes of over 12,000 children... [Read More]

Study finds new genes linked to anorexia

29 November 2010 - by Dr Lux Fatimathas

Several genetic markers associated with the psychiatric disorder anorexia nervosa (AN) have been identified. American researchers carried out the first, large-scale genome-wide association study (GWAS) for AN... [Read More]

Ten questions for Dr Julian Huppert MP

12 July 2010 - by Dr Vivienne Raper

Before Dr Julian Huppert was elected MP for Cambridge in May this year, he was a computational biologist at Cambridge University studying the structure and function of DNA. Now, he's one of only two scientists with PhDs in parliament. BioNews quizzed him about science funding, synthetic biology and the shortage of scientists in politics... [Read More]

Rare genetic variants found to play role in development of autism

14 June 2010 - by Sandy Starr

Results from the largest international study of its kind into autism strongly suggests that rare genetic variants contribute far more than common variants to the risk of developing the condition.... [Read More]

Rare gene mutation blamed for some childhood obesity

07 December 2009 - by Dr Vivienne Raper

A rare gene mutation may explain the weight of some severely overweight young children, a study has found. The new findings have already affected when social workers judge children to be deliberately overfed or neglected... [Read More]

Gene clue to neuroblastoma

22 June 2009 - by Lorna Stewart

Neuroblastoma, a form of paediatric cancer which affects the nervous system, may be caused by copy number variations (CNVs) in genes which control nervous system development. The research, published last week in Nature, suggests a different genetic mechanism for cancers than was previously proposed. Dr John Maris who led the study at the University of Pennsylvania, Philadelphia, US, said 'We can infer that it's not just going to be true for neuroblastoma. My expectation is that there will be ... [Read More]


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