| In genomics, Copy Number Variations (CNVs) is a type of structural variation in a genome where sections of the genome are duplicated or deleted. The number of variations (duplications/deletions) varies between individuals in the human population.
The Copy Number Variation Simulator (CNV-Sim) is a simulation tool that extends the functionality of existing next-generation sequencing read simulators to introduce copy number variations in the generated reads. The resulting reads encompass amplifications as well as deletions according to a predefined list of variant regions. CNV-Sim aids testing and benchmarking tools for copy number variation detection and analysis. The tool offers two types of simulation: 1. CNV simulation in whole genome. CNV-Sim utilizes the functionality of ART to introduce variations in the genome. 2. CNV simulation in targeted exome. CNV-Sim utilizes the functionality of Wessim to introduce variations in the targets. |
hg clone https://toolshed.g2.bx.psu.edu/repos/ahosny/cnvsim
| Name | Description | Version | Minimum Galaxy Version |
|---|---|---|---|
| in NGS short reads | 0.9.2 | any | |