CNVannotator

Integrative annotation of copy number variations in humans

• 1. Filter 356,817 common and 181,261 disease CNVs.
• 2. Overlap with 2,864,501 known variants from genome-wide association studies and gene fusion events with phenotypes.
• 3. Perform discovery on 2,013,344 genomic features, including ENCODE regultory element, segmental duplication, promoter, enhancer, methylation sites, and transcription factor binding sites.
• 4. Create cancer-specific annotations for 716 tumor suppressor genes and 263 oncogenes for CNVs.