Hello, I think this question is a lost cause, but I'll still ask: internal tandem duplications (ITD's) in the tyrosine kinase domain of FGFR1 is one of many major criteria in diagnosing pediatric gliomas (see the publication cIMPACT #4). However, the data in the copy number variant and structural variant data is not specific enough. There are many "FGFR1 intragenic" events but that's too vague. Usually, the ITD is mentioned in the report comments, or if we know which exons were affected (10-17), we can confirm that it's an ITD. Any idea if or how I could find this information?

Created by Hia Ghosh hghosh1
Hi @hghosh , Thank you for your question. For the public release 13, the consortium is working on converting structural variant data to a new format to incorporate additional information, including breakpoint locations. So unfortunately, this information is not currently available but will potentially be available by the end of 2022 or early 2023. Best, Haley

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