UNIT 2.13 CNV Analysis Using TaqMan Copy Number Assays

  1. Ping Mayo1,
  2. Toinette Hartshorne2,
  3. Kelly Li2,
  4. Chara McMunn-Gibson1,
  5. Kylee Spencer1,
  6. Nathalie Schnetz-Boutaud1

Published Online: 1 OCT 2010

DOI: 10.1002/0471142905.hg0213s67

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Mayo, P., Hartshorne, T., Li, K., McMunn-Gibson, C., Spencer, K. and Schnetz-Boutaud, N. 2010. CNV Analysis Using TaqMan Copy Number Assays. Current Protocols in Human Genetics. 67:2.13:2.13.1–2.13.10.

Author Information

  1. 1

    Center for Human Genetic Research, Vanderbilt University, Nashville, Tennessee

  2. 2

    Applied Biosystems, Foster City, California

Publication History

  1. Published Online: 1 OCT 2010
  2. Published Print: OCT 2010


Copy number variations are important polymorphisms that can influence the expression of genes within and close to the rearranged region. This allows transcription levels to be higher or lower than those that can be achieved by control of transcription of a single copy. Recently, copy number variations have been associated with genetic diseases such as cancer, immune diseases, and neurological disorders. TaqMan copy number assays are designed to detect and measure copy number variation in the human genome using real-time polymerase chain reaction and unquenching of fluorescent probes for the target sequence. Curr. Protoc. Hum. Genet. 67:2.13.1-2.13.10 © 2010 by John Wiley & Sons, Inc.


  • CNV;
  • TaqMan;
  • copy number assays