Welcome to CNVD

CNVD (Copy Number Variation in Disease) is a systematic and comprehensive database for copy number variations and related diseases, in which all the records were manually extracted from experimental data published in CNV-related articles. Hence, CNVD database is a reliable and comprehensive resource for studying diseases associated copy number variations.

Users can search the database in several ways: by gene name, disease name, chromosome location, or copy number variation region. In query results, each record contains such information: species, chromosomes, the start and end locations of the CNV, related disease, genes in the CNV region and PubMed ID of the source article. The results can be downloaded in batches or single, according to the users' need.

CNVD will update regularly. The current release of CNVD incorporates 251697 records which contain 183219 CNV segments and 844 related diseases and 46348 genes mined from the article published in the year 2006 to March, 2014. In additional, you are welcomed to submit your experimental data of copy number variation and diseases, which will be checked in time and supplemented to CNVD database.

If you have any question or suggestion, please feel free to contact us by the following email address. Your advice will help us to improve the CNVD database.


Please cite our work as following:

Qiu, F., Y. Xu, K. Li, Z. Li, Y. Liu, H. DuanMu, S. Zhang, Z. Li, Z. Chang, Y. Zhou, R. Zhang, S. Zhang, C. Li, Y. Zhang, M. Liu and X. Li (2012). CNVD: Text mining-based copy number variation in disease database. Hum Mutat 33(11): E2375-2381. PubMed ID: 22826268.

CopyRight ©Department of Biological Physics, College of Bioinformatics Science and Technology,

Harbin Medical University, China