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  )


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Notes: ACRD: Autism Chromosome Rearrangement Database
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000852 3 3q23 gain 1 - Pinto, 2010
AutCNV0000853 3 3q23 gain 1 - Pinto, 2010
AutCNV0000854 5 5q21.3 gain 1 - Pinto, 2010
AutCNV0000855 6 6q14.3 loss 1 - Pinto, 2010
AutCNV0000856 7 7p14.3 gain 1 - Pinto, 2010
AutCNV0000857 7 7q21.13 loss 1 - Pinto, 2010
AutCNV0000858 9 9p24.1 loss 1 - Pinto, 2010
AutCNV0000859 9 9p21.3 loss 1 - Pinto, 2010
AutCNV0000860 9 9p21.1 loss 1 - Pinto, 2010
AutCNV0000861 9 9q21.13 gain 1 - Pinto, 2010
AutCNV0000862 10 10q26.3 gain 1 - Pinto, 2010
AutCNV0000863 12 12p13.33 loss 1 - Pinto, 2010
AutCNV0000864 12 12q21.31 loss 1 - Pinto, 2010
AutCNV0000865 14 14q31.2 gain 1 - Pinto, 2010
AutCNV0000866 17 17p11.2 gain 1 - Pinto, 2010
AutCNV0000867 17 17q21.32 gain 1 - Pinto, 2010
AutCNV0000868 X Xp22.2 gain 1 - Pinto, 2010
AutCNV0000869 2 2q21.1 gain 1 - Pinto, 2010
AutCNV0000870 7 7q11.21 loss 1 - Pinto, 2010
AutCNV0000871 1 1p35.2 loss 1 - Pinto, 2010
AutCNV0000872 2 2p22.1 loss 1 - Pinto, 2010
AutCNV0000873 2 2p12 gain 1 - Pinto, 2010
AutCNV0000874 3 3p26.3 gain 1 - Pinto, 2010
AutCNV0000875 3 3q26.1 loss 1 - Pinto, 2010
AutCNV0000876 4 4q12 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