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
AutCNV0003077 X Xq28 gain 1 - Pinto, 2010
AutCNV0003078 X Xq28 gain 1 - Pinto, 2010
AutCNV0003079 1 1q44 gain 1 - Pinto, 2010
AutCNV0003080 2 2p12 loss 1 - Pinto, 2010
AutCNV0003081 2 2p11.2 gain 1 - Pinto, 2010
AutCNV0003082 3 3p26.3 gain 1 - Pinto, 2010
AutCNV0003083 3 3q27.3 loss 1 - Pinto, 2010
AutCNV0003084 4 4q13.1 loss 1 - Pinto, 2010
AutCNV0003085 4 4q13.1 loss 1 - Pinto, 2010
AutCNV0003086 4 4q13.2 loss 1 - Pinto, 2010
AutCNV0003087 4 4q32.1 loss 1 - Pinto, 2010
AutCNV0003088 5 5p15.33 gain 1 - Pinto, 2010
AutCNV0003089 5 5p15.33 loss 1 - Pinto, 2010
AutCNV0003090 4 4p16.3 gain 1 - Pinto, 2010
AutCNV0003091 6 6p21.33 loss 1 - Pinto, 2010
AutCNV0003092 6 6p21.33 loss 1 - Pinto, 2010
AutCNV0003093 6 6p21.33 loss 1 - Pinto, 2010
AutCNV0003094 6 6p21.33 loss 1 - Pinto, 2010
AutCNV0003095 6 6p21.33 loss 1 - Pinto, 2010
AutCNV0003096 6 6p21.33 loss 1 - Pinto, 2010
AutCNV0003097 2 2p25.3 gain 1 - Pinto, 2010
AutCNV0003098 7 7p14.1 loss 1 - Pinto, 2010
AutCNV0003099 7 7q36.3 gain 1 - Pinto, 2010
AutCNV0003100 8 8q24.3 gain 1 - Pinto, 2010
AutCNV0003101 9 9p21.3 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