Table 3 De novo and homozygous CNVs
From: Sacral agenesis: a pilot whole exome sequencing and copy number study
Patients | Chromosome | Start Position | End Position | Length | Type | Genes or regulatory elements | Patients with related symptoms listed in DECIPHER (type of CNV, patient phenotype) |
|---|---|---|---|---|---|---|---|
CR5C | |||||||
|  | 3q13.13 | 109489534 | 109510473 | 20939 | De novo/deletion | – | 971, deletion; abnormality of the sacrum, Abnormality of the small intestine, Anal atresia, Cloacal exstrophy, Omphalocele, Spina bifida occulta. |
|  | 8p23.2 | 5599399 | 5605087 | 5688 | homozygous/deletion | – | 271204, duplication; Abnormality of the sacrum, Central hypotonia, Deeply set eye, Hypermetropia, Long thorax, Narrow mouth, Nasogastric tube feeding in infancy, Seizures, Strabismus. |