cnv-data is a repository that provides data for the Copy Number Variation Booklet.

This data is licensed under a Creative Commons Attribution 4.0 International License.

For complete citation details of our work or the data resources we used, please refer to the Documentation.

• Download the latest ORPHADATA files
• Download the latest HGNC gene information
• Filter and merge data into clean outputs

• conda

conda create -n data_env python=3.11 -y
conda activate data_env

pip install -r requirements.txt

To add a new CNV or modify existing ones (e.g. add a disease identifier like an ORPHAcode, or a description), edit cnv_data.xlsx

python scripts/update_datasets.py