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
AutCNV0002777 11 11q14.3 loss 1 - Pinto, 2010
AutCNV0002778 11 11q21 gain 1 - Pinto, 2010
AutCNV0002779 11 11q21 loss 1 - Pinto, 2010
AutCNV0002780 11 11q21 gain 1 - Pinto, 2010
AutCNV0002781 11 11q22.1 loss 1 - Pinto, 2010
AutCNV0002782 11 11q22.1 loss 1 - Pinto, 2010
AutCNV0002783 11 11q22.3 gain 1 - Pinto, 2010
AutCNV0002784 11 11q24.2 loss 1 - Pinto, 2010
AutCNV0002785 11 11q25 gain 1 - Pinto, 2010
AutCNV0002786 11 11q25 gain 1 - Pinto, 2010
AutCNV0002787 11 11q25 gain 1 - Pinto, 2010
AutCNV0002788 12 12p13.33 loss 1 - Pinto, 2010
AutCNV0002789 12 12p12.2 loss 1 - Pinto, 2010
AutCNV0002790 12 12p11.22 gain 1 - Pinto, 2010
AutCNV0002791 12 12q13.13 gain 1 - Pinto, 2010
AutCNV0002792 12 12q13.3 loss 1 - Pinto, 2010
AutCNV0002793 12 12q14.2 gain 1 - Pinto, 2010
AutCNV0002794 12 12q14.3 loss 1 - Pinto, 2010
AutCNV0002795 12 12q21.1 loss 1 - Pinto, 2010
AutCNV0002796 12 12q21.1 loss 1 - Pinto, 2010
AutCNV0002797 12 12q21.31 loss 1 - Pinto, 2010
AutCNV0002798 12 12q21.31 loss 1 - Pinto, 2010
AutCNV0002799 12 12q21.31 loss 1 - Pinto, 2010
AutCNV0002800 12 12q21.31 gain 1 - Pinto, 2010
AutCNV0002801 12 12q21.31 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