Copy Number Variation Analysis

Copy number variation (CNV) analysis involves detection of DNA copy number changes, as well as aberrant chromosome amplifications and deletions, relative to a reference genome. Illumina offers a variety of solutions for high-resolution copy number analysis.

Array-Based Copy Number Variation Analysis

Genome-wide genotyping arrays are commonly used to detect genetic variants, including copy number variants, that contribute to diseases and phenotypes.

Illumina offers both human and non-human genotyping arrays for CNV analysis. Illumina scientists strategically select the markers on the arrays to provide maximum genome coverage for optimal copy number analysis.

Learn more about the following applications, and find arrays that enable CNV analysis:

Analyzing CNVs in Array Data

GenomeStudio Software enables researchers to analyze SNP and CNV array data across millions of markers. The software includes a genotyping module with CNV analysis plug-ins for array studies.

BlueFuse Multi Software is designed to manage the wealth of information generated by copy number variation assays in a single easy-to-use product. The software helps clinical research labs analyze array-based molecular cytogenetic and IVF (in vitro fertilization) data, as well as NGS-based IVF data.


For Research Use Only.

Copy Number Analysis with NGS

The Nextera Mate Pair Sample Preparation Kit provides a whole-genome sequencing solution for structural variation studies, including copy number variation analysis.

Software Tools to Analyze CNVs in NGS Data

The BaseSpace Core Apps, software tools for bioinformatics novices, include options for analyzing CNVs in NGS data.

Flexible Array Scanner

iScan The iScan System enables copy number analysis plus a variety of other microarray analysis applications.
Learn more »

CNV Analysis for Cancer Studies

Learn about solutions for detecting copy number variants and other chromosome abnormalities in cancer samples.