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Structural Variant Query

🔹 CNV & SV Query

1. Input Variant

  • From the Home page, choose “Single CNV/SV”.
  • Enter the variant in the format: chromosome_starting position_ending position_mutation type Example: chr3_100000_200000_dup
  • Click Run to proceed.


2. Select Reference Genome and Type

  • Reference genome options: GRCh37, GRCh38
  • Mutation type options: CNV, SV
  • Click Start Analysis to begin.

    Note: CNVs and SVs are annotated using AnnotSV.


3. View Results

  • Annotated results appear once loaded.
  • Customize displayed columns using the “Columns” button.

4. Export Data

  • Export all annotation tables as a compressed file via the “Export All” button. image