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Fig. 2 | BMC Genomics

Fig. 2

From: Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

Fig. 2

Details of CNV analyses. a IGV images for heterozygous deletion CNV in patient 51, showing proximal and distal breakpoint. The CNV involves whole of CEP170 and part of SDCAAG8 genes. Top, middle and bottom panels are child’s .bam file, mother’s .bam file and father .bam file respectively. Read-depth coverage shows CNV is de novo (red ovals). b Cartoon of breakpoint junction seuqence showing a 24 bp chromosome 16 (green box) and 107 bp chromosome 5 sequence (yellow box) inserted between the proximal and distal breakpoints on chromosome 1q43. Yellow shaded segment shows sequnce microhomology- this 14 bp seuqence (TTGGGAGTAGAGGG) is found at chromosome 5:40,069,598-40,069,612 and at chromosome 1:243,447,747-243,447,761, hg19). Sanger sequence trace images are overlaid confirming the CNV breakpoint. Grey arrows denote PCR forward and reverse primers. N denotes DNA repeat sequence. c Genomic interval involved in the de novo CNV detected in patient 51- ucsc genome browser (hg19). Red highlighted box shows region involved in the deletion in our patient. Yellow boxes show critical region for 1q43-44 sydrome defined by Nagamani et al. Green box shows critical region as defined by Perlman et al. N.B, Nagamani et al. also highlight ZBTB18 (old name ZNG238) in their critical region

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