|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|