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:4 ( 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
AutCNV0001705 4 4q12 gain 1 - Pinto, 2010
AutCNV0001706 4 4q12 gain 1 - Pinto, 2010
AutCNV0001707 4 4q13.1 loss 1 - Pinto, 2010
AutCNV0001708 4 4q13.1 gain 1 - Pinto, 2010
AutCNV0001709 4 4q13.1 loss 1 - Pinto, 2010
AutCNV0001710 4 4q13.1-13.2 gain 1 - Pinto, 2010
AutCNV0001711 4 4q13.2 loss 1 - Pinto, 2010
AutCNV0001712 4 4q13.2 loss 1 - Pinto, 2010
AutCNV0001713 4 4q13.3 loss 1 - Pinto, 2010
AutCNV0001714 4 4q13.3 loss 1 - Pinto, 2010
AutCNV0001715 4 4q13.3-21.1 gain 1 - Pinto, 2010
AutCNV0001716 4 4q21.1 gain 1 - Pinto, 2010
AutCNV0001717 4 4q24 loss 1 - Pinto, 2010
AutCNV0001718 4 4q26 gain 1 - Pinto, 2010
AutCNV0001719 4 4q28.1 loss 1 - Pinto, 2010
AutCNV0001720 4 4q28.1 loss 1 - Pinto, 2010
AutCNV0001721 4 4q28.3 gain 1 - Pinto, 2010
AutCNV0001722 4 4q28.3 loss 1 - Pinto, 2010
AutCNV0001723 4 4q28.3 loss 1 - Pinto, 2010
AutCNV0001724 4 4q31.23 loss 1 - Pinto, 2010
AutCNV0001725 4 4q32.1 gain 1 - Pinto, 2010
AutCNV0001726 4 4q32.2 gain 1 - Pinto, 2010
AutCNV0001727 4 4q34.3 gain 1 - Pinto, 2010
AutCNV0001728 4 4q35.1 gain 1 - Pinto, 2010
AutCNV0001729 4 4q35.1 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