AutismKB 2.0

View CNVs/SVs


View by Evidence Type: de novo CNVs ( CNVs Only Present In Patients   de novo CNVs   Overlapping/Recurrent CNVs  
                                        CNVs Overlapping With ACRD   CNVs Not Present In Control   Significant Enriched CNVs   Others  All  )


View by Chromosome:4 ( 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X  Y  All  )


Notes: ACRD: Autism Chromosome Rearrangement Database
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000119 4 4q35.2 loss 2 - de novo CNVs; Szatmari, 2007
AutCNV0000129 4 4q21 loss 1 - de novo CNVs; Jacquemont, 2006
AutCNV0000130 4 4q21-23 loss 1 - de novo CNVs; Jacquemont, 2006
AutCNV0001492 4 4q21.22 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0004550 4 4q13.2 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004552 4 4q13.2 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004581 4 4q13.2 Gain 1 - de novo CNVs; Patircia, 2011
AutCNV0004620 4 4q32-34 loss - - CNVs Only Present In Patients; de novo CNVs; Ramanathan, 2004
AutCNV0004677 4 4q28.1 gain - - CNVs Only Present In Patients; de novo CNVs; Gazzellone MJ, 2014
AutCNV0004921 4 - - - - de novo CNVs; Tammimies K, 2015
AutCNV0005142 4 4q13.3 loss - - CNVs Only Present In Patients; de novo CNVs; Soueid J, 2016
AutCNV0005757 4 - Loss - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017
AutCNV0005885 4 4p16.1 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005886 4 4q24 loss - - de novo CNVs; Brandler WM, 2018

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018