Appendix 6 of Alayed, Mol Vis 2025; 31:486-500.


Appendix 6. Putative copy number variants identified in FECD cases that did not have an expanded repeat (A), had an expanded repeat (B) and in non-FECD controls (C).

To access the data, click or select the words “Appendix 6.” HGNC gene symbol, sample ID, genomic coordinates of variant in hg19 version of the genome, the type of copy number variant (CNV), transcript accession number, number of exons affected, the expected and observed reads and their ratio relative to each other, and the Bayesian factor (BF) score are shown. There was no evidence to support the CNVs when the samples were reviewed using the IGV software.