CNV/SV annotation (from VCF)

VarSome Clinical offers a pipeline to annotate CNVs from VCF files. There are two ways to annotate CNVs from VCFs.

  • Provide a valid VCF file containing only CNV variants when launching a new analysis either from FASTQ or VCF. Please, visit the Launching new analysis page to find more details.
  • Provide a valid VCF file containing only CNV variants to run a sub-analysis for an already analyzed sample.