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
AutCNV0002827 13 13q31.3 gain 1 - Pinto, 2010
AutCNV0002828 13 13q31.3 loss 1 - Pinto, 2010
AutCNV0002829 13 13q32.1 gain 1 - Pinto, 2010
AutCNV0002830 13 13q32.1 gain 1 - Pinto, 2010
AutCNV0002831 13 13q32.2-32.3 gain 1 - Pinto, 2010
AutCNV0002832 13 13q33.2 loss 1 - Pinto, 2010
AutCNV0002833 13 13q33.2 gain 1 - Pinto, 2010
AutCNV0002834 13 13q34 gain 1 - Pinto, 2010
AutCNV0002835 14 14q12 loss 1 - Pinto, 2010
AutCNV0002836 14 14q12 loss 1 - Pinto, 2010
AutCNV0002837 14 14q21.1 loss 1 - Pinto, 2010
AutCNV0002838 14 14q21.3 loss 1 - Pinto, 2010
AutCNV0002839 14 14q21.3 loss 1 - Pinto, 2010
AutCNV0002840 14 14q21.3 loss 1 - Pinto, 2010
AutCNV0002841 14 14q21.3 loss 1 - Pinto, 2010
AutCNV0002842 14 14q21.3 loss 1 - Pinto, 2010
AutCNV0002843 14 14q21.3 loss 1 - Pinto, 2010
AutCNV0002844 14 14q21.3 loss 1 - Pinto, 2010
AutCNV0002845 14 14q21.3 loss 1 - Pinto, 2010
AutCNV0002846 14 14q21.3 loss 1 - Pinto, 2010
AutCNV0002847 14 14q21.3 loss 1 - Pinto, 2010
AutCNV0002848 14 14q21.3 loss 1 - Pinto, 2010
AutCNV0002849 14 14q22.2 loss 1 - Pinto, 2010
AutCNV0002850 14 14q22.2 loss 1 - Pinto, 2010
AutCNV0002851 14 14q23.1 gain 1 - Pinto, 2010

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  (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