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
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
AutCNV0000254 4 4q31.3-33 loss 1 - CNVs Only Present In Patients; Ramanathan, 2004
AutCNV0000255 7 7p11.2-14.1 gain 1 - CNVs Only Present In Patients; Wolpert, 2001
AutCNV0000256 7 7q11.23 loss 1 - CNVs Only Present In Patients; Edelmann, 2007
AutCNV0000257 7 7q11.23 gain 1 - de novo CNVs; Depienne, 2007
AutCNV0000258 15 15q11-13 gain 1 - CNVs Only Present In Patients; Silva, 2002
AutCNV0000259 15 15q11.2 gain 2 - Overlapping/Recurrent CNVs; Cook, 1997
AutCNV0000260 16 16p11.2 gain 2 - Overlapping/Recurrent CNVs; Finelli, 2004
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
AutCNV0000263 4 4p12-13 gain 1 - CNVs Only Present In Patients; Sabaratnam, 2000
AutCNV0000264 8 8p21-23 gain 1 - CNVs Only Present In Patients; Papanikolaou, 2006
AutCNV0000265 13 13q12-13 loss 1 - CNVs Only Present In Patients; Smith, 2002
AutCNV0000266 13 13q14-22 loss 1 - CNVs Only Present In Patients; Steele, 2001
AutCNV0000267 15 15pter-q13 gain 1 - de novo CNVs; Konstantareas, 1999
AutCNV0000268 15 15q11-13 gain 1 - de novo CNVs; Kwasnicka-Crawford, 2007
AutCNV0000269 22 22q11 loss 1 - CNVs Only Present In Patients; Roubertie, 2001
AutCNV0000270 22 22q11 loss 1 - CNVs Only Present In Patients; Niklasson, 2002
AutCNV0000271 8 8p23 loss 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000272 15 15q11.2-13 loss 2 - Overlapping/Recurrent CNVs; Wassink, 2001
AutCNV0000273 15 15q11.2-13 gain 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000274 15 15q22 loss 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000275 16 16q13-22 loss 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000276 17 17q23 gain 1 - CNVs Only Present In Patients; Wassink, 2001

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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