Copy number variation analysis
deCODE now offers the first comprehensive solution for copy number variation (CNV) analysis. In collaboration with Illumina, deCODE has developed a next generation CNV content which is the first to specifically target regions in the genome that are more likely to present novel CNVs.

Genotyping platforms have up to now focused on the SNPable genome defined by the HapMap project. However, regions containing CNVs are typically very complex - making them difficult to target with current genotyping platforms. With the new content, deCODE has addressed the important need for coverage of these complex regions (also referred to as the unSNPable or untaggable genome). Novel probes and SNPs are used to directly measure genome copy number by intensity. rather than using SNPs as surrogates for CNV alleles.

Copy Number Variations Analyses brochure

Available .PDF formats: LETTER layout

The CNV platform contains over 13,000 novel regions and all known regions that show common and rare CNVs using more than 55,000 SNPs or probes. The content covers the following regions:

  Definition Size Approx. # of Segments
Megasatellites Head to tail repeats covering hundreds of base pairs.

>500 bp 167
Duplicons All duplicons as well as segments flanked by duplicons within 500 kb. Superior coverage for 154 Mb of segmental duplications defined as duplicons separated by up to 3kb. Other platforms cover <30% of these regions.

 >1000 bp 22700
Unstable regions Regions of the genome containing either no quality SNPs or containing at least 2 SNPs that failed quality checks in the HapMap project.

 5-15 kb 2800
MHC region Missing information from large sections of this region missed by other arrays.

3.4 Mb 1500
Known CNVs All known rare and common CNVs from the Toronto Database of Genomic Variants

   2100

deCODE offers the following services with the CNV content using the Illumina genotyping technology:

  • iSelect BeadChip featuring CNV content alone
    (this platform is only offered by deCODE)

  • HumanHap300-Duo with the additional CNV content
    (also known as HumanCNV370-Duo)
  • 1M BeadChip which includes the additional CNV content

Our services include:

  • Providing materials for shipping your samples to deCODE
  • Quality control
  • Setting-up and running of genotyping arrays
  • Delivering called alleles for SNPs and intensity report for CNV SNPs and probes

See how deCODE validated the content >>

For more information, please contact genotyping@decode.com.