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Table 1 CNV data from DECIPHER and control CNVs taken from the WTCCC2 study

From: Deletions of chromosomal regulatory boundaries are associated with congenital disease

Data n Length (Mb) HPO terms TDBs Genes
DECIPHER
CNV cases 7,535 3.61 (±7.54) 3.3 (±4.9) 3.3 (±7.6) 29.2 (±53.6)
Deletions 4,055 3.68 (±5.74) 3.6 (±4.2) 3.4 (±5.6) 27.7 (±37.6)
Deletions with phenotype data 2,300 3.7 (±5.0) 5.6 (±4.7) 3.5 (±5.2) 27.3 (±32.7)
Deletions with unique target phenotype 922 4.6 (±5.3) 7.5 (±5.1) 4.3 (±5.7) 33.3 (±35.0)
WTCCC2 Controls
Probands 5,919 0.428 (±0.29) 0.0 (±0.0) 0.099 (±0.37) 2.9 (±4.2)
Deletions 1,958 0.414 (±0.27) 0.0 (±0.0) 0.071 (±0.29) 2.3 (±2.9)
  1. The mean value (± one standard deviation) is shown for the length of the CNV in megabases (Mb), the number of HPO terms used to annotate the CNV (only DECIPHER), as well as the number of TDBs and the number of genes contained within the CNV.
  2. CNV, copy-number variation/variant; HPO, Human Phenotype Ontology; Mb, megabase; TDB, topological domain boundary; WTCCC2, Wellcome Trust Case Control Consortium 2.