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CNV Report for the Patient

Report is located on the "CNV Report" tab at the patient page.

The “Result” section includes a report about the presence or absence of a deviation from the normal copy number in any chromosome in all patient samples.

The "Interpretation of results and conclusions" section contains a table with the following information on patient samples:

  1. Detected CNVs (reducing or increasing the number of copies in any chromosome)
  2. Sample coverage
  3. Special marks (data quality report):
  • No mark if data quality is good;
  • “There are non-critical problems with data quality” if coverage < 0.01X;
  • “Results excluded due to unreliability. Sequencing depth too low.” if coverage < 0.001X;
  • “Analysis not performed, software error” if the sample analysis finished with an error.

To download CNV report in PDF format, click on the button in the upper right corner of the report page.