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
AutCNV0000151 16 16p11.2 loss 2 - Overlapping/Recurrent CNVs; de novo CNVs; Marshall, 2008
AutCNV0000152 16 16p11.2 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000153 16 16q24.3 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000154 18 18q21.32-23 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000155 20 20q13.33 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000156 21 21q22.3 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000157 22 22q11.21 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000158 22 22q11.21 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000159 22 22q13.31-13.33 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000160 22 22q13.33 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000161 X Xp22.33-22.31 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000162 X Xp11.23-p11.22 gain 1 - de novo CNVs; Marshall, 2008
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

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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