CNV/SV Training

The following resources include training materials for curating structural variants (SVs) and copy number variants (CNVs), including our internal SOP and training videos.

SV/CNV SOP

ACMG/AMP Guidelines

SV/CNV Analysis and Curation Organization

SV/CNV calculator

SV/CNV Webinar Series

Practice Curations

X-Linked CNV Points

SV/CNV SOP

CNV Curation SOP

ACMG/AMP Guidelines

Riggs_2019.pdf

SV/CNV Analysis and Curation Organization

How to organize SV analysis and curations

SV/CNV calculator

SV's and CNV's cannot be curated in the VCI, but there is an online calculator that is helpful for curation.

SV/CNV Webinar Series

Practice Curations

These are very early curations using the ACMG CNV guidelines and changes may have been made to the SOP since these were completed. Curation folders with relevant literature can be found in CMG-GREGoR>Variant Interpretations/Curation>SV>Monicas paper.

MONICA'S CASES

X-Linked CNV Points

This is an unofficial scoring metric created for scoring cases where the proband has an SV that is X-linked. Use this when counting cases from seqr, decipher, or the literature to determine how many points should be added to the total score (This is the equivalent of categories 4 and 5 from the Rooney-Riggs guidelines)

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