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
AutCNV0002230 X Xq25 loss 1 - Pinto, 2010
AutCNV0002231 X Xq26.3 loss 1 - Pinto, 2010
AutCNV0002232 X Xq27.3 loss 1 - Pinto, 2010
AutCNV0002233 X Xq27.3 gain 1 - Pinto, 2010
AutCNV0002297 X Xq21.31 gain 1 - Pinto, 2010
AutCNV0002298 X Xq21.31 gain 1 - Pinto, 2010
AutCNV0002299 X Xq27.2 loss 1 - Pinto, 2010
AutCNV0003013 X Xp22.33 gain 1 - Pinto, 2010
AutCNV0003014 X Xp22.32-22.33 gain 1 - Pinto, 2010
AutCNV0003015 X Xp22.32 gain 1 - Pinto, 2010
AutCNV0003016 X Xp22.31 gain 1 - Pinto, 2010
AutCNV0003017 X Xp22.31 loss 1 - Pinto, 2010
AutCNV0003018 X Xp22.31 loss 1 - Pinto, 2010
AutCNV0003019 X Xp22.31 loss 1 - Pinto, 2010
AutCNV0003020 X Xp22.31 loss 1 - Pinto, 2010
AutCNV0003021 X Xp22.31 gain 1 - Pinto, 2010
AutCNV0003022 X Xp22.31 gain 1 - Pinto, 2010
AutCNV0003023 X Xp22.2 gain 1 - Pinto, 2010
AutCNV0003024 X Xp22.12 gain 1 - Pinto, 2010
AutCNV0003025 X Xp22.11 gain 1 - Pinto, 2010
AutCNV0003026 X Xp21.1 gain 1 - Pinto, 2010
AutCNV0003027 X Xp21.1 gain 1 - Pinto, 2010
AutCNV0003028 X Xp11.4 gain 1 - Pinto, 2010
AutCNV0003029 X Xp11.4 gain 1 - Pinto, 2010
AutCNV0003030 X Xp11.4 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