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  )


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Notes: ACRD: Autism Chromosome Rearrangement Database
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000001 2 2q24.2 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000002 2 2q37.2-q37.3 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000003 2 2q37.3 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000033 2 2p11.2 loss 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000054 2 2p25.3 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000055 2 2q32.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000056 2 2q32.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000057 2 2q32.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000137 2 2q32.1 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000163 2 2q14.1 loss 1 - Other; Marshall, 2008
AutCNV0000164 2 2q14.1 gain 1 - Other; Marshall, 2008
AutCNV0000165 2 2q32.1 loss 1 - Other; de novo CNVs; Marshall, 2008
AutCNV0000166 2 2q32.1 loss 1 - Other; Marshall, 2008
AutCNV0000200 2 2p25.3 loss 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000201 2 2p24.2 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000202 2 2p22.3 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000203 2 2p21 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000204 2 2p15 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000205 2 2q32.3 loss 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000252 2 2p16-15.1 loss 1 - de novo CNVs; Rajcan-Separovic, 2007
AutCNV0000253 2 2q35 loss 1 - CNVs Only Present In Patients; Borg, 2002
AutCNV0000261 2 2q32.1-32.3 loss 1 - CNVs Only Present In Patients; Gallagher, 2003
AutCNV0000262 2 2q33.3-35 loss 1 - CNVs Only Present In Patients; Pescucci, 2003
AutCNV0000307 2 2p24.3 gain 33 7 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0000317 2 2q33.3 gain 1 - CNVs Only Present In Patients; Cusco, 2008

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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