Figure 1 | Scientific Reports

Figure 1

From: N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

Figure 1

Patient 1 SNP Array results, Illumina HCS850 hg19. Top – Chromosome 17 ideogram, NAGS is located in band 17q21.31, starting at g.42,082,032(GRCh37/hg19). Middle – copy number Log2R profile of individual probes (range −2 to 2). Bottom – Heterozygosity plot of polymorphic probes (SNPs) using individual BAF values (range 0 to 1). The patients ROH (yellow shaded segment) as called by software starts at g.41,823,402, and spans 39 Mb and 14 k probes.

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