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:X ( 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
AutCNV0003031 X Xp11.4 gain 1 - Pinto, 2010
AutCNV0003032 X Xp11.3 gain 1 - Pinto, 2010
AutCNV0003033 X Xq12 gain 1 - Pinto, 2010
AutCNV0003034 X Xq12 gain 1 - Pinto, 2010
AutCNV0003035 X Xq12 gain 1 - Pinto, 2010
AutCNV0003036 X Xq12 gain 1 - Pinto, 2010
AutCNV0003037 X Xq13.1 gain 1 - Pinto, 2010
AutCNV0003038 X Xq13.3 gain 1 - Pinto, 2010
AutCNV0003039 X Xq13.3 gain 1 - Pinto, 2010
AutCNV0003040 X Xq21.1 gain 1 - Pinto, 2010
AutCNV0003041 X Xq21.1 gain 1 - Pinto, 2010
AutCNV0003042 X Xq21.32 gain 1 - Pinto, 2010
AutCNV0003043 X Xq21.32 gain 1 - Pinto, 2010
AutCNV0003044 X Xq21.33 loss 1 - Pinto, 2010
AutCNV0003045 X Xq22.2 gain 1 - Pinto, 2010
AutCNV0003046 X Xq22.2 gain 1 - Pinto, 2010
AutCNV0003047 X Xq22.2 gain 1 - Pinto, 2010
AutCNV0003048 X Xq22.2 gain 1 - Pinto, 2010
AutCNV0003049 X Xq22.2 gain 1 - Pinto, 2010
AutCNV0003050 X Xq22.2 gain 1 - Pinto, 2010
AutCNV0003051 X Xq22.2 gain 1 - Pinto, 2010
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

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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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