Quantitative analysis of copy number variants based on real-time LightCycler PCR

Curr Protoc Hum Genet. 2014 Jan 21:80:7.21.1-7.21.8. doi: 10.1002/0471142905.hg0721s80.


Quantitative real-time PCR is PCR visualized in real time by the use of fluorescent or intercalating dyes, which are employed to measure gene expression or gene quantification including contiguous gene deletions or duplications. A simple method is described here to quantify DNA copy number from human samples.

Keywords: CNV; copy number analysis; qPCR.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • DNA Copy Number Variations / genetics*
  • DNA Primers
  • Gene Deletion
  • Gene Dosage
  • Genetic Predisposition to Disease
  • Genetic Testing / methods*
  • Humans
  • Real-Time Polymerase Chain Reaction / methods*


  • DNA Primers