CNV detection in targeted NGS panel data

This dataset was created for the validation of CNV detection methods for targeted NGS data. targeted NGS panel data from 170 samples that were processed using the TruSightTM Cancer (TSC) panel (Illumina, San Diego, CA, USA), which targets 94 genes and 284 SNPs associated with a predisposition towards cancer. The samples are enriched for CNVs in the genes of interest. All CNVs have previously been assessed with Multiplex Ligation-dependent Probe Amplification (MLPA) and can therefore be considered as confirmed.

Further information concerning the data can be found in Povysil et al. 2017.

Details about the samples including which genes to analyze can be found here: Sample Details

The BED file used for the analysis can be found here: BED File

The FASTQ files are available via the European Genome-Phenome Archive (EGA) under the accession number EGAS00001002481.

Access to the EGA dataset is made available by the JKU and MUI Data Access Committee for targeted NGS panel data.

How to apply?

Access to the data requires the completion of a Data Access Agreement [Word | PDF].
Applications can include collaborators, but each Institution must submit their own signed Data Access Agreement.
A signed copy of the agreement should be e-mailed to
The data access application form is part of the Data Access Agreement (Appendix II).
Any questions regarding access or completion of the forms should be sent via e-mail.

Please cite:

Povysil G, Tzika A, Vogt J, et al. panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics. Human Mutation. 2017;38:889–897.