AutismKB 2.0

View CNVs/SVs


View by Evidence Type: All ( 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
AutCNV0000019 4 4p15.32-16.3 loss 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000035 4 4q35.2 loss 6 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000060 4 4q34.3-35.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000061 4 4q35.1-35.2 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000062 4 4q35.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000063 4 4q35.2 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000064 4 4q35.2 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000065 4 4q35.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000066 4 4q35.2 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000067 4 4q35.2 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000068 4 4q35.2 loss 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000069 4 4q35.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
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
AutCNV0000254 4 4q31.3-33 loss 1 - CNVs Only Present In Patients; Ramanathan, 2004
AutCNV0000263 4 4p12-13 gain 1 - CNVs Only Present In Patients; Sabaratnam, 2000
AutCNV0000311 4 4q31.21 gain 10 2 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0000320 4 4q26 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000395 4 4q38.3 loss - - Other; Morrow, 2008
AutCNV0000483 4 4p16.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000484 4 4q35.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000703 4 4q12 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000749 4 4q35.2 loss 1 - Pinto, 2010
AutCNV0000876 4 4q12 gain 1 - Pinto, 2010

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Simple Query:


  (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