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  )


View by Chromosome:All ( 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X  Y  All  )


Notes: ACRD: Autism Chromosome Rearrangement Database
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0001152 18 18q22.1 loss 1 - Pinto, 2010
AutCNV0001153 19 19p12 gain 1 - Pinto, 2010
AutCNV0001154 19 19p12 gain 1 - Pinto, 2010
AutCNV0001155 19 19q13.2 gain 1 - Pinto, 2010
AutCNV0001156 19 19q13.41 gain 1 - Pinto, 2010
AutCNV0001157 19 19q13.41 gain 1 - Pinto, 2010
AutCNV0001158 19 19q13.43 gain 1 - Pinto, 2010
AutCNV0001159 20 20p12.1 gain 1 - Pinto, 2010
AutCNV0001160 20 20q13.12-13.13 gain 1 - Pinto, 2010
AutCNV0001161 22 22q13.33 loss 1 - Pinto, 2010
AutCNV0001162 22 22q13.33 loss 1 - Pinto, 2010
AutCNV0001163 X Xp22.33 gain 1 - Pinto, 2010
AutCNV0001164 X Xp22.2 gain 1 - Pinto, 2010
AutCNV0001165 11 11p12 gain 1 - Pinto, 2010
AutCNV0001166 X Xq27.2 loss 1 - Pinto, 2010
AutCNV0001167 X Xq27.2 loss 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

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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