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:All ( 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
AutCNV0000677 7 7q22.1 gain 2 - Overlapping/Recurrent CNVs; Maestrini, 2009
AutCNV0000678 7 7q22.1 gain 1 - Overlapping/Recurrent CNVs; Maestrini, 2009
AutCNV0000679 7 7q31.1 gain 1 - CNVs Only Present In Patients; Maestrini, 2009
AutCNV0000680 8 8p21.2-p23.1 gain 1 - Overlapping/Recurrent CNVs; Ozgen, 2009
AutCNV0000681 8 8p23.1 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Ozgen, 2009
AutCNV0000682 8 8p23.1-p23.2 gain 2 - Overlapping/Recurrent CNVs; Ozgen, 2009
AutCNV0000683 16 16q24.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Willemsen, 2010
AutCNV0000684 16 16q24.2-24.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Willemsen, 2010
AutCNV0000685 16 16q24.2-24.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Willemsen, 2010
AutCNV0000686 15 15q21.3 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000687 3 3q22.3 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000688 6 6q27 Gain null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000689 12 12q21.2 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000690 17 17q21.31 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000691 2 2p23.1 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000692 8 8q21.13 Gain null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000693 11 11q13.4 Gain null null CNVs Not Present In Control; Berkel, 2010
AutCNV0000694 15 15q24.2 Gain null null CNVs Not Present In Control; Berkel, 2010
AutCNV0000695 16 16q24.3 Gain null null CNVs Not Present In Control; Berkel, 2010
AutCNV0000696 20 20q13.33 Loss null null CNVs Not Present In Control; Berkel, 2010
AutCNV0000697 6 6p12.3 Gain null null CNVs Not Present In Control; Berkel, 2010
AutCNV0000698 7 7p21.1 Loss null null CNVs Not Present In Control; Berkel, 2010
AutCNV0000699 6 6p21 Gain null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000702 11 11q13.3 Loss null null CNVs Not Present In Control; de novo CNVs; Berkel, 2010
AutCNV0000703 4 4q12 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 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