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
AutCNV0000981 1 1p33 loss 1 - Pinto, 2010
AutCNV0000982 1 1p33 loss 1 - Pinto, 2010
AutCNV0000983 1 1p33 loss 1 - Pinto, 2010
AutCNV0000984 1 1p31.3 gain 1 - Pinto, 2010
AutCNV0000985 1 1p31.1 loss 1 - Pinto, 2010
AutCNV0000986 1 1p13.2 gain 1 - Pinto, 2010
AutCNV0000987 1 1q21.1 gain 1 - Pinto, 2010
AutCNV0000988 1 1q21.1 loss 1 - Pinto, 2010
AutCNV0000989 1 1q31.3 loss 1 - Pinto, 2010
AutCNV0000990 1 1q31.3 loss 1 - Pinto, 2010
AutCNV0000991 1 1q31.3 loss 1 - Pinto, 2010
AutCNV0000992 1 1q44 gain 1 - Pinto, 2010
AutCNV0001168 1 1p36.33 loss 1 - Pinto, 2010
AutCNV0001169 1 1p36.32 gain 1 - Pinto, 2010
AutCNV0001170 1 1p36.22 gain 1 - Pinto, 2010
AutCNV0001171 1 1p36.13 loss 1 - Pinto, 2010
AutCNV0001172 1 1p36.13 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001173 1 1p36.13 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001174 1 1p34.2 gain 1 - Pinto, 2010
AutCNV0001175 1 1p33 loss 1 - Pinto, 2010
AutCNV0001176 1 1p33 gain 1 - Pinto, 2010
AutCNV0001177 1 1p32.1 gain 1 - Pinto, 2010
AutCNV0001178 1 1p22.2 loss 1 - Pinto, 2010
AutCNV0001179 1 1p21.3 gain 1 - Pinto, 2010
AutCNV0001180 1 1p21.1 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