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  )


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Notes: ACRD: Autism Chromosome Rearrangement Database
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0002402 2 2q32.1 gain 1 - Pinto, 2010
AutCNV0002403 2 2q32.1 loss 1 - Pinto, 2010
AutCNV0002404 2 2q32.1 loss 1 - Pinto, 2010
AutCNV0002405 2 2q32.1 loss 1 - Pinto, 2010
AutCNV0002406 2 2q32.1 gain 1 - Pinto, 2010
AutCNV0002407 2 2q32.3 loss 1 - Pinto, 2010
AutCNV0002408 2 2q32.3 loss 1 - Pinto, 2010
AutCNV0002409 2 2q32.3 loss 1 - Pinto, 2010
AutCNV0002410 2 2q32.3 loss 1 - Pinto, 2010
AutCNV0002411 2 2q34 gain 1 - Pinto, 2010
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
AutCNV0002421 3 3p26.3 gain 1 - Pinto, 2010
AutCNV0002422 3 3p26.3 loss 1 - Pinto, 2010
AutCNV0002423 3 3p26.2 loss 1 - Pinto, 2010
AutCNV0002424 3 3p26.2 loss 1 - Pinto, 2010
AutCNV0002425 3 3p26.1 loss 1 - Pinto, 2010
AutCNV0002426 3 3p26.1 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