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
AutCNV0001493 1 1p36.13 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001496 1 1q12-21.1 gain 1 - Pinto, 2010
AutCNV0001497 1 1p36.13 loss 1 - Pinto, 2010
AutCNV0001498 1 1q21.1 gain 1 - Pinto, 2010
AutCNV0001512 1 1p36.21 gain 1 - Pinto, 2010
AutCNV0001514 1 1p34.2 gain 1 - Pinto, 2010
AutCNV0001515 1 1p33 gain 1 - Pinto, 2010
AutCNV0001516 1 1q42.12 gain 1 - Pinto, 2010
AutCNV0001527 1 1q12-21.1 gain 1 - Pinto, 2010
AutCNV0001533 1 1p36.21 gain 1 - Pinto, 2010
AutCNV0001535 1 1p36.33 loss 1 - Pinto, 2010
AutCNV0001536 1 1p36.33 loss 1 - Pinto, 2010
AutCNV0001537 1 1p36.22 gain 1 - Pinto, 2010
AutCNV0001538 1 1p36.22 gain 1 - Pinto, 2010
AutCNV0001539 1 1p36.13 loss 1 - Pinto, 2010
AutCNV0001540 1 1p36.11 gain 1 - Pinto, 2010
AutCNV0001541 1 1p36.11 gain 1 - Pinto, 2010
AutCNV0001542 1 1p35.1 gain 1 - Pinto, 2010
AutCNV0001543 1 1p33 loss 1 - Pinto, 2010
AutCNV0001544 1 1p33 loss 1 - Pinto, 2010
AutCNV0001545 1 1p33 loss 1 - Pinto, 2010
AutCNV0001546 1 1p33 loss 1 - Pinto, 2010
AutCNV0001547 1 1p33 loss 1 - Pinto, 2010
AutCNV0001548 1 1p32.2 gain 1 - Pinto, 2010
AutCNV0001549 1 1p32.1 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