# 4p16.3-11 duplication — WFS1 Molecular Atlas Card

**Variant type:** Copy-number variant (duplication)
**Region:** Chromosome 4p16.3-11 (gene-level structural event)

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## CNV-gain — Copy-number duplication — 4p16.3-11

This is a large copy-number duplication spanning 4p16.3-11 — a gene-level event causing an extra copy of this region (gene over-dosage / partial trisomy). CNVs act by dosage rather than by altering a single residue, so AlphaFold residue mapping, ΔΔG, NMD and AlphaMissense don't apply. Therapeutically these are gene-replacement candidates (restore a working copy); per-residue chaperone/readthrough strategies are not relevant. Confirm breakpoints and gene content against the ClinVar record below.

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## Clinical evidence

- **Classification:** Pathogenic
- **Review status:** criteria provided, single submitter
- **Associated conditions:** See cases
- **ClinVar accession:** VCV000929396
- **Genomic variant:** GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3
- **Last evaluated:** 2019/10/29 00:00

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_Card generated by `wolfram-atlas-batch` (CNV pipeline) on 2026-06-08T03:03:52.335891Z._
_CNVs are gene-level events; WFS1 protein reference UniProt O76024 is not residue-mapped here._