Table 3 First-tier CNVs not detected by WES pipeline.
From: Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES
Proband | Location (Size) | Associated Disease | Suspected MOI | Copy Number |
|---|---|---|---|---|
21-0005-C | chr1:1495451–1,533,892 (38.44 kb) | Harel-Yoon syndrome | AR | 1 (DEL) |
chr18:3447874–3,454,084 (6.21 kb) | Alobar holoprosencephaly | AD | 1 (DEL) | |
21-0015-C | chr1:1495451–1,533,892 (38.44 kb) | Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | AR | 1 (DEL) |
21-0016-C | chr1:147022730–148,013,144 (990.41 kb) | Atrial standstill, digenic (GJA5/SCN5A) | AD | 3 (DUP) |
21-0017-C | chrX:22,077,297–22,141,199 (63.9 kb) | Hypophosphatemic rickets, X-linked dominant | XLD | 0 (DEL) |
22-0007-C | chrX:32,254,376–33,312,638 (1058.26 kb) | Duchenne muscular dystrophy | XLR | 0 (DEL) |
