Fig. 4: Case examples. | npj Genomic Medicine

Fig. 4: Case examples.

From: Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort

Fig. 4

A An intragenic deletion of exons 3–7 of COL17A1 was identified on manual inspection of a sequence variant in the same gene (red circle). This combination of a sequence variant and CNV accounts for the patient’s phenotype. B An example of a 3.3 Mb microduplication at 15q22.31q23 that was confirmed by chromosomal microarray. C 18p and 18q terminal losses, likely resulting in formation of a ring chromosome. D De novo 22q11.2 deletion.

Back to article page