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
AutCNV0003052 X Xq22.2 gain 1 - Pinto, 2010
AutCNV0003053 X Xq23 loss 1 - Pinto, 2010
AutCNV0003054 X Xq23 gain 1 - Pinto, 2010
AutCNV0003055 X Xq23 gain 1 - Pinto, 2010
AutCNV0003056 X Xq23 gain 1 - Pinto, 2010
AutCNV0003057 X Xq23 gain 1 - Pinto, 2010
AutCNV0003058 X Xq23 gain 1 - Pinto, 2010
AutCNV0003059 X Xq23 loss 1 - Pinto, 2010
AutCNV0003060 X Xq24 loss 1 - Pinto, 2010
AutCNV0003061 X Xq25 loss 1 - Pinto, 2010
AutCNV0003062 X Xq26.3 gain 1 - Pinto, 2010
AutCNV0003063 X Xq26.3 gain 1 - Pinto, 2010
AutCNV0003064 X Xq26.3 gain 1 - Pinto, 2010
AutCNV0003065 X Xq26.3 gain 1 - Pinto, 2010
AutCNV0003066 X Xq27.1-27.2 gain 1 - Pinto, 2010
AutCNV0003067 X Xq27.1-27.2 gain 1 - Pinto, 2010
AutCNV0003068 X Xq27.2 gain 1 - Pinto, 2010
AutCNV0003069 X Xq27.2 loss 1 - Pinto, 2010
AutCNV0003070 X Xq27.2 gain 1 - Pinto, 2010
AutCNV0003071 X Xq27.3 gain 1 - Pinto, 2010
AutCNV0003072 X Xq27.3 gain 1 - Pinto, 2010
AutCNV0003073 X Xq27.3 gain 1 - Pinto, 2010
AutCNV0003074 X Xq28 gain 1 - Pinto, 2010
AutCNV0003075 X Xq28 gain 1 - Pinto, 2010
AutCNV0003076 X Xq28 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


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