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:X ( 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
AutCNV0000135 X Xq25 gain 1 - CNVs Only Present In Patients; Jacquemont, 2006
AutCNV0000161 X Xp22.33-22.31 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000162 X Xp11.23-p11.22 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000246 X Xp22.32 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000247 X Xp22.22 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000299 X Xp22 loss 1 - de novo CNVs; Thomas, 1999
AutCNV0000300 X Xp22 loss 1 - de novo CNVs; Thomas, 1999
AutCNV0000301 X Xp22 loss 1 - de novo CNVs; Thomas, 1999
AutCNV0000302 X Xp11.22 loss 2 - Overlapping/Recurrent CNVs; Qiao, 2008
AutCNV0000387 X Xp11.4 gain 1 - CNVs Only Present In Patients; Noor, 2009
AutCNV0000671 X Xp22.1-p22.3 loss 1 - CNVs Only Present In Patients; Vazna, 2010
AutCNV0000701 X Xq13.2 Gain null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000711 X Xp21.1 gain 2 1 Overlapping/Recurrent CNVs; Pagnamenta, 2011
AutCNV0000713 X Xp11.2-p22.33 gain 1 - CNVs Only Present In Patients; Edens, 2011
AutCNV0000714 X Xp11.22-p11.23 gain 1 - CNVs Only Present In Patients; Edens, 2011
AutCNV0000727 X Xq28 gain 1 - CNVs Only Present In Patients; Bremer, 2011
AutCNV0000765 X Xp22.11 loss 1 - Pinto, 2010
AutCNV0000766 X Xp22.11 loss 1 - Pinto, 2010
AutCNV0000767 X Xp22.11 loss 1 - Pinto, 2010
AutCNV0000768 X Xp21.2-21.3 gain 1 - Pinto, 2010
AutCNV0000769 X Xp11.4 gain 1 - Pinto, 2010
AutCNV0000770 X Xp11.3 gain 1 - Pinto, 2010
AutCNV0000771 X Xq28 loss 1 - Pinto, 2010
AutCNV0000777 X Xp22.11 loss 1 - Pinto, 2010
AutCNV0000797 X Xp22.2 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