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. 2023 Aug 17;110(9):1454–1469. doi: 10.1016/j.ajhg.2023.07.010

Figure 5.

Figure 5

Examples of diagnostic structural variants uniquely identified by genome sequencing

(A) A 5,618 bp single exon in-frame deletion in RERE in an ASD proband.

(B) A compound heterozygous missense variant in trans with an intragenic exonic duplication in DYNC2H1 in a fetus with short-rib thoracic dysplasia.

(C) An SVA retrotransposon insertion disrupting DMD in an ASD proband.

(D) A balanced reciprocal translocation between chromosomes 12 and 13 in an ASD proband that directly disrupts GRIN2B.

(E) Linear representation of a de novo complex SV impacting chromosome 1 in an ASD proband. Each rearranged segment of DNA in the derivative chromosome is depicted by a unique roman numeral (i–v), while the four deleted segments of DNA are outlined in purple and sequentially numbered DEL 1–4 (6.3 Mb total deleted). Arrows and chromosomes are not drawn to scale. Inverted segments are denoted by a reverse orientation of arrows. Genomic coordinates for this variant are provided in Table S11.