Visualisation of big insertions by using Illumina emedgene

Question

[Nina]

I am using Illumina Emedgene software to describe a RECQL4 variant. According to emedgene, my variant contains a big insertion (0.264kbp). The individual carryng this variant is a homolog. When I look at the IGV interface (incorporated in the Emedgene software) I fail to recognize the insertion. Moreover, sinse this is a big insertion and PTEN is an essential gene, I fail to se how such big structural alterations is posible for healthy individuals carring this variant in both chromosomes. Could someone explain me:

1. How is the visual representation of my variant in IGV visualizing the insertion?
2. Is the deletion present in the same region somehow connected to the insertion?
3. What are the left and right svinsseq?
4. Is it possible that the reference genome (GRCh37) is lacking? Since it seams there is just one non-coding nucleotide betweetn two coding areas?
5. What is the best way to visualize sequences of reads mapped around certain areas of interest?

Thanks everyone in advance!

PS: I also provided pictures of the problem.

[GenoMax]

You may want to contact Illumina tech support for the questions about their software. Looks like this is licensed software so people who have access to this software will be limited on this forum.