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
AutCNV0000827 2 2p16.3 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000828 2 2p16.3 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000829 2 2p16.3 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000830 2 2q31.2 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000831 22 22q13.33 gain 1 - Pinto, 2010
AutCNV0000832 22 22q11.21 loss 1 - Pinto, 2010
AutCNV0000833 19 19q13.32 loss 1 - Pinto, 2010
AutCNV0000834 15 15q11.2 loss 1 - Pinto, 2010
AutCNV0000835 10 10q21.3 loss 1 - Pinto, 2010
AutCNV0000836 10 10q21.3 loss 1 - Pinto, 2010
AutCNV0000837 10 10q21.3 loss 1 - Pinto, 2010
AutCNV0000838 10 10q21.3 loss 1 - Pinto, 2010
AutCNV0000839 16 16q21 loss 1 - Pinto, 2010
AutCNV0000840 15 15q13.2 loss 1 - Pinto, 2010
AutCNV0000841 15 15q22.31 gain 1 - Pinto, 2010
AutCNV0000842 15 15q11.2 gain 1 - Pinto, 2010
AutCNV0000843 9 9p24.3 gain 1 - Pinto, 2010
AutCNV0000844 15 15q13.1-13.3 loss 1 - Pinto, 2010
AutCNV0000845 7 7q22.1 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000846 14 14q11.2 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0000847 17 17q25.1 gain 1 - Pinto, 2010
AutCNV0000848 11 11q23.3 gain 1 - Pinto, 2010
AutCNV0000849 1 1p34.2 gain 1 - Pinto, 2010
AutCNV0000850 1 1q25.3 loss 1 - Pinto, 2010
AutCNV0000851 3 3p22.3 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