The CNV Variant Assessment tab will provide you with information about the region in the genome.
“Clinical summary” section shows the automated ACMG classification along with the most relevant genes and regions in the CNV, based on Haploinsufficiency and Triplosensitivity evidence (by Clingen and Franklin).
The most relevant syndromes will be presented, and phenotypes that match the syndrome will be highlighted.
In the “Region viewer”, information about the region in the genome will be presented.
The entire Chromosome is shown with the detailed cytobands.
This is a dynamic view where you can click on a cytoband and have all the relevant information.
The borders of the CNV will be highlighted with red lines on the chromosome.
Below, a zoomed-in information is presented, such as the genes that are in the CNV. “Dosage Sensitivity” will show all the genes and regions that are known to be haploinsufficient or Triplosensitive.
“Curated Submissions” will present all the Clinvar and Decipher submissions, each line is colored by the submitted classification.
A set of filters can help view variants similar to yours, for example you can filter by “Deletion” or “Duplication” and also set the “Overlap” percentage.
You can hover any submission line to see its details, a clink on the line will take you to the relevant page in Clinvar and Decipher.
Healthy population databases such as Dgv Gold, Dgv and GnomAD are also presented.
“Internal Occurrence” presents all the samples in your organization that have a similar CNV that overlaps by 50% or more.
“References” will show all the detailed curated submissions from Clinvar and Decipher (classification, phenotypes, % overlap, submitter, etc.)
Still have questions? Reach out to our Support Team, they'll be happy to help!