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:22 ( 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
AutCNV0000015 22 22q13.31-13.33 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000030 22 22q11.21 loss 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000031 22 22q11.21 gain 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000048 22 22q13.32-13.33 loss 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000157 22 22q11.21 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000158 22 22q11.21 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000159 22 22q13.31-13.33 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000160 22 22q13.33 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000188 22 22q11.2 loss 1 - Other; Marshall, 2008
AutCNV0000189 22 22q11.2 gain 2 - Overlapping/Recurrent CNVs; Other; de novo CNVs; Marshall, 2008
AutCNV0000190 22 22q11.2 gain 1 - Other; Marshall, 2008
AutCNV0000191 22 22q13.31 gain 1 - Other; Marshall, 2008
AutCNV0000192 22 22q13.31 loss 1 - Other; Marshall, 2008
AutCNV0000244 22 22q11.21 gain 2 - Overlapping/Recurrent CNVs; de novo CNVs; Christian, 2008
AutCNV0000245 22 22q13.33 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000269 22 22q11 loss 1 - CNVs Only Present In Patients; Roubertie, 2001
AutCNV0000270 22 22q11 loss 1 - CNVs Only Present In Patients; Niklasson, 2002
AutCNV0000277 22 22q13 gain 1 - CNVs Only Present In Patients; Wassink, 2001
AutCNV0000282 22 22q13 loss 1 - de novo CNVs; Prasad, 2000
AutCNV0000296 22 22q13.3 loss 1 - de novo CNVs; Goizet, 2000
AutCNV0000382 22 22q12.3 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000383 22 22q13.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000384 22 22q13.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000385 22 22q13.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000386 22 22q13.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009

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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