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:8 ( 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
AutCNV0000682 8 8p23.1-p23.2 gain 2 - Overlapping/Recurrent CNVs; Ozgen, 2009
AutCNV0000692 8 8q21.13 Gain null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000704 8 8p22 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000700 8 8p21 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000752 8 8p23.1 loss 1 - Pinto, 2010
AutCNV0000813 8 8p23.3 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0000819 8 8q12.3-13.1 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000885 8 8q21.2 loss 1 - Pinto, 2010
AutCNV0000909 8 8q24.3 gain 1 - Pinto, 2010
AutCNV0000946 8 8p23.3 loss 1 - Pinto, 2010
AutCNV0000947 8 8p23.2 gain 1 - Pinto, 2010
AutCNV0000967 8 8q24.3 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0001083 8 8p23.3 gain 1 - Pinto, 2010
AutCNV0001084 8 8p23.2 loss 1 - Pinto, 2010
AutCNV0001085 8 8p23.2 gain 1 - Pinto, 2010
AutCNV0001086 8 8p22 loss 1 - Pinto, 2010
AutCNV0001087 8 8p22 loss 1 - Pinto, 2010
AutCNV0001088 8 8p21.3-22 gain 1 - Pinto, 2010
AutCNV0001089 8 8p21.3 loss 1 - Pinto, 2010
AutCNV0001090 8 8q12.1 gain 1 - Pinto, 2010
AutCNV0001091 8 8q13.3 gain 1 - Pinto, 2010
AutCNV0001092 8 8q21.13 loss 1 - Pinto, 2010
AutCNV0001093 8 8q21.3 gain 1 - Pinto, 2010
AutCNV0001094 8 8q24.13 loss 1 - Pinto, 2010
AutCNV0001266 8 8p23.1 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