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
AutCNV0000798 X Xp22.2 loss 1 - Pinto, 2010
AutCNV0000799 X Xp22.12 gain 1 - Pinto, 2010
AutCNV0000800 X Xp22.11 loss 1 - Pinto, 2010
AutCNV0000801 X Xp22.11 loss 1 - Pinto, 2010
AutCNV0000802 X Xp21.1 gain 1 - Pinto, 2010
AutCNV0000803 X Xq22.3 gain 1 - Pinto, 2010
AutCNV0000804 X Xq27.1 gain 1 - Pinto, 2010
AutCNV0000868 X Xp22.2 gain 1 - Pinto, 2010
AutCNV0000940 X Xp11.4 gain 1 - Pinto, 2010
AutCNV0000941 X Xq23 gain 1 - Pinto, 2010
AutCNV0000942 X Xq27.2 loss 1 - Pinto, 2010
AutCNV0000961 X Xp22.11 loss 1 - Pinto, 2010
AutCNV0000962 X Xp21.1 gain 1 - Pinto, 2010
AutCNV0001163 X Xp22.33 gain 1 - Pinto, 2010
AutCNV0001164 X Xp22.2 gain 1 - Pinto, 2010
AutCNV0001166 X Xq27.2 loss 1 - Pinto, 2010
AutCNV0001167 X Xq27.2 loss 1 - Pinto, 2010
AutCNV0001361 X Xp11.4 gain 1 - Pinto, 2010
AutCNV0001372 X Xp22.31 gain 1 - Pinto, 2010
AutCNV0001373 X Xp22.31 gain 1 - Pinto, 2010
AutCNV0001374 X Xp22.13-22.2 gain 1 - Pinto, 2010
AutCNV0001375 X Xp21.3 gain 1 - Pinto, 2010
AutCNV0001376 X Xp21.2 loss 1 - Pinto, 2010
AutCNV0001377 X Xq21.32 loss 1 - Pinto, 2010
AutCNV0001378 X Xq21.33 loss 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