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Table 1 Population dataset descriptions

From: Systematic identification of phenotypically enriched loci using a patient network of genomic disorders

  All patients Cases Control
Samples 10,324 6,564 5,072b
Identified CNVs 14,226a 9,186 495,916
Type of CNVs:    
Loss 7,554 5,101 343,489
Gain 6,672 4,085 152,427
Average CNV length (Kb) 3,336 3,014 31
Type of inheritance:    
De novo constitutive 14,501 2,454  
Inherited from normal parent 9,345 1,945  
Inherited from parent with similar phenotype to child 1,345 240  
Unknown 21,946 3,638  
  1. The table shows genotyped patients in DECIPHER database (All), the genotyped and phenotyped patients from DECIPHER used in this work (Cases) and the healthy individuals from the DGV repository (Control). The first column indicates the distribution of data based on number of individuals, number and type of CNVs and their type of inheritance. a This is a pre-selection of CNVs from DECIPHER that are potentially pathogenic. b This number does not correspond to individual samples