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: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
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
AutCNV0000189 22 22q11.2 gain 2 - Overlapping/Recurrent CNVs; Other; de novo CNVs; Marshall, 2008
AutCNV0000244 22 22q11.21 gain 2 - Overlapping/Recurrent CNVs; de novo CNVs; Christian, 2008
AutCNV0000282 22 22q13 loss 1 - de novo CNVs; Prasad, 2000
AutCNV0000296 22 22q13.3 loss 1 - de novo CNVs; Goizet, 2000
AutCNV0000723 22 22q11.21-q11.22 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Bremer, 2011
AutCNV0000724 22 22q13 loss 1 - de novo CNVs; Bremer, 2011
AutCNV0000826 22 22q11.21 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0003864 22 22q11.21 loss 1 - de novo CNVs; Levy, 2011
AutCNV0003865 22 22q11.21 loss 1 - de novo CNVs; Levy, 2011
AutCNV0003866 22 22q12.1 loss 1 - de novo CNVs; Levy, 2011
AutCNV0003867 22 22q13.1 loss 1 - de novo CNVs; Levy, 2011
AutCNV0004389 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004573 22 22q11.1 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004576 22 22q11.1 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004611 22 22q11.2 Gain 1 - de novo CNVs; Chen, 2011
AutCNV0004621 22 22q13 loss - - CNVs Only Present In Patients; de novo CNVs; Durand, 2007
AutCNV0004860 22 22q13.3 loss - - CNVs Only Present In Patients; de novo CNVs; Moreira DP, 2014
AutCNV0004861 22 22q13.3 loss - - CNVs Only Present In Patients; de novo CNVs; Moreira DP, 2014
AutCNV0004932 22 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004933 22 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015

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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