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
AutCNV0000752 8 8p23.1 loss 1 - Pinto, 2010
AutCNV0000753 9 9q33.2 gain 1 - Pinto, 2010
AutCNV0000754 15 15q13.2-13.3 loss 1 - Pinto, 2010
AutCNV0000755 16 16p12.1 loss 1 - Pinto, 2010
AutCNV0000756 18 18p11.21 loss 1 - Pinto, 2010
AutCNV0000757 18 18q12.2 loss 1 - Pinto, 2010
AutCNV0000758 20 20p12.1 loss 1 - Pinto, 2010
AutCNV0000759 22 22q11.21 gain 1 - Pinto, 2010
AutCNV0000760 22 22q11.21 gain 1 - Pinto, 2010
AutCNV0000761 22 22q11.21 gain 1 - Pinto, 2010
AutCNV0000762 22 22q11.21 gain 1 - Pinto, 2010
AutCNV0000763 2 2p16.3 loss 1 - Pinto, 2010
AutCNV0000764 20 20p12.1 loss 1 - Pinto, 2010
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
AutCNV0000772 15 15q15.3 loss 1 - Pinto, 2010
AutCNV0000773 1 1q42.2 gain 1 - Pinto, 2010
AutCNV0000774 5 5p12 loss 1 - Pinto, 2010
AutCNV0000775 5 5q23.1 gain 1 - Pinto, 2010
AutCNV0000776 6 6p22.1 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