AutismKB 2.0

View CNVs/SVs


View by Evidence Type: Others ( 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
AutCNV0000163 2 2q14.1 loss 1 - Other; Marshall, 2008
AutCNV0000164 2 2q14.1 gain 1 - Other; Marshall, 2008
AutCNV0000165 2 2q32.1 loss 1 - Other; de novo CNVs; Marshall, 2008
AutCNV0000166 2 2q32.1 loss 1 - Other; Marshall, 2008
AutCNV0000167 6 6q22.31 gain 1 - Other; Marshall, 2008
AutCNV0000168 6 6q22.31 gain 1 - Other; Marshall, 2008
AutCNV0000169 7 7q36.2 gain 1 - Other; Marshall, 2008
AutCNV0000170 7 7q36.2 gain 1 - Other; Marshall, 2008
AutCNV0000171 7 7q36.2 gain 1 - Other; Marshall, 2008
AutCNV0000172 7 7q36.2 loss 1 - Other; de novo CNVs; Marshall, 2008
AutCNV0000173 8 8q11.23 gain 1 - Other; Marshall, 2008
AutCNV0000174 8 8q11.23 gain 1 - Other; Marshall, 2008
AutCNV0000175 9 9p24.1 loss 1 - Other; Marshall, 2008
AutCNV0000176 9 9p24.1 loss 1 - Other; Marshall, 2008
AutCNV0000177 11 11p12 loss 1 - Other; Marshall, 2008
AutCNV0000178 11 11p12 loss 1 - Other; Marshall, 2008
AutCNV0000179 13 13q21.32 gain 1 - Other; Marshall, 2008
AutCNV0000180 13 13q21.32 gain 1 - Other; Marshall, 2008
AutCNV0000181 15 15q11.2-q13.3 gain 1 - Other; de novo CNVs; Marshall, 2008
AutCNV0000183 16 16p12.2 gain 1 - Other; Marshall, 2008
AutCNV0000184 16 16p12.2 loss 1 - Other; Marshall, 2008
AutCNV0000185 16 16p11.2 gain 1 - Other; Marshall, 2008
AutCNV0000186 16 16p11.2 gain 1 - Other; de novo CNVs; Marshall, 2008
AutCNV0000187 16 16p11.2 loss 2 - Overlapping/Recurrent CNVs; Other; de novo CNVs; Marshall, 2008
AutCNV0000188 22 22q11.2 loss 1 - Other; Marshall, 2008

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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