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:2 ( 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
AutCNV0002412 2 2q36.3 loss 1 - Pinto, 2010
AutCNV0002413 2 2q37.1 loss 1 - Pinto, 2010
AutCNV0002414 2 2q37.2 loss 1 - Pinto, 2010
AutCNV0002415 2 2q37.2 gain 1 - Pinto, 2010
AutCNV0002416 2 2q37.2 gain 1 - Pinto, 2010
AutCNV0002417 2 2q37.3 gain 1 - Pinto, 2010
AutCNV0002418 2 2q37.3 gain 1 - Pinto, 2010
AutCNV0002419 2 2q37.3 gain 1 - Pinto, 2010
AutCNV0002420 2 2q37.3 gain 1 - Pinto, 2010
AutCNV0003080 2 2p12 loss 1 - Pinto, 2010
AutCNV0003081 2 2p11.2 gain 1 - Pinto, 2010
AutCNV0003097 2 2p25.3 gain 1 - Pinto, 2010
AutCNV0003133 2 2p25.3 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003134 2 2p25.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003135 2 2p24.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003136 2 2p16.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003137 2 2p16.3 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003138 2 2p16.3 gain 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003139 2 2p16.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003140 2 2p16.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003141 2 2p16.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003142 2 2p16.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003143 2 2p16.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003144 2 2p16.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003145 2 2p16.1 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011

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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