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
AutCNV0000777 X Xp22.11 loss 1 - Pinto, 2010
AutCNV0000778 1 1p33 loss 1 - Pinto, 2010
AutCNV0000779 1 1p33 loss 1 - Pinto, 2010
AutCNV0000780 1 1p33 loss 1 - Pinto, 2010
AutCNV0000781 1 1p31.1 loss 1 - Pinto, 2010
AutCNV0000782 1 1q21.1 gain 1 - Pinto, 2010
AutCNV0000783 2 2q23.1 gain 1 - Pinto, 2010
AutCNV0000784 2 2q31.1 loss 1 - Pinto, 2010
AutCNV0000785 3 3p26.3 gain 1 - Pinto, 2010
AutCNV0000786 5 5p14.3 loss 1 - Pinto, 2010
AutCNV0000787 7 7p21.1 gain 1 - Pinto, 2010
AutCNV0000788 7 7q35 gain 1 - Pinto, 2010
AutCNV0000789 7 7q35 gain 1 - Pinto, 2010
AutCNV0000790 7 7q35 gain 1 - Pinto, 2010
AutCNV0000791 9 9q33.2 gain 1 - Pinto, 2010
AutCNV0000792 11 11q22.1 gain 1 - Pinto, 2010
AutCNV0000793 16 16p12.1 loss 1 - Pinto, 2010
AutCNV0000794 16 16p11.2 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000795 18 18q12.2 loss 1 - Pinto, 2010
AutCNV0000796 20 20p12.1 loss 1 - Pinto, 2010
AutCNV0000797 X Xp22.2 gain 1 - Pinto, 2010
AutCNV0000798 X Xp22.2 loss 1 - Pinto, 2010
AutCNV0000799 X Xp22.12 gain 1 - Pinto, 2010
AutCNV0000800 X Xp22.11 loss 1 - Pinto, 2010
AutCNV0000801 X Xp22.11 loss 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