Related Experiment Video
Updated: Jun 4, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants
Jeremias Krause1, Carlos Classen2, Daniela Dey2
1Medical Faculty, Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, Pauwelsstrasse 30, 52074, Aachen, North-Rhine-Westphalia, Germany. jerkrause@ukaachen.de.
Background:
Methods to call, analyze and visualize copy number variations (CNVs) from massive parallel sequencing data have been widely adopted in clinical practice and genetic research. To enable a streamlined analysis of CNV data, comprehensive annotations and good visualizations are indispensable. The ability to detect single exon CNVs is another important feature for genetic testing. Nonetheless, most available open-source tools come with limitations in at least one of these areas. One additional drawback is that available tools deliver data in an unstructured and static format which requires subsequent visualization and formatting efforts.
Results:
Here we present CNVizard, an interactive Streamlit app allowing a comprehensive visualization of CNVkit data. Furthermore, combining CNVizard with the CNVand pipeline allows the annotation and visualization of CNV or SV VCF files from any CNV caller.
Conclusion:
CNVizard, in combination with CNVand, enables the comprehensive and streamlined analysis of short- and long-read sequencing data and provide an intuitive webapp-like experience enabling an interactive visualization of CNV data.
Related Concept Videos
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Single Nucleotide Polymorphisms-SNPs

