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
AutCNV0001902 8 8p21.3-22 gain 1 - Pinto, 2010
AutCNV0001903 8 8p21.3 gain 1 - Pinto, 2010
AutCNV0001904 8 8p21.2 loss 1 - Pinto, 2010
AutCNV0001905 8 8q11.23 gain 1 - Pinto, 2010
AutCNV0001906 8 8q12.1 gain 1 - Pinto, 2010
AutCNV0001907 8 8q12.1 gain 1 - Pinto, 2010
AutCNV0001908 8 8q21.2 gain 1 - Pinto, 2010
AutCNV0001909 8 8q22.2 loss 1 - Pinto, 2010
AutCNV0001910 8 8q22.2 loss 1 - Pinto, 2010
AutCNV0001911 8 8q22.2 loss 1 - Pinto, 2010
AutCNV0001912 8 8q22.2 gain 1 - Pinto, 2010
AutCNV0001913 8 8q23.3 loss 1 - Pinto, 2010
AutCNV0001914 8 8q23.3 loss 1 - Pinto, 2010
AutCNV0001915 8 8q23.3 loss 1 - Pinto, 2010
AutCNV0001916 8 8q24.11 loss 1 - Pinto, 2010
AutCNV0001917 8 8q24.3 gain 1 - Pinto, 2010
AutCNV0001918 9 9p24.3 gain 1 - Pinto, 2010
AutCNV0001919 9 9p24.1 loss 1 - Pinto, 2010
AutCNV0001920 9 9p24.1 loss 1 - Pinto, 2010
AutCNV0001921 9 9p24.1 loss 1 - Pinto, 2010
AutCNV0001922 9 9p24.1 loss 1 - Pinto, 2010
AutCNV0001923 9 9p24.1 loss 1 - Pinto, 2010
AutCNV0001924 9 9p24.1 loss 1 - Pinto, 2010
AutCNV0001925 9 9p23 loss 1 - Pinto, 2010
AutCNV0001926 9 9p23 loss 1 - Pinto, 2010

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  (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