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
AutCNV0005907 9 9q34.13 loss - - Brandler WM, 2018
AutCNV0005908 10 10q21.3-q22.1 gain - - de novo CNVs; Brandler WM, 2018
AutCNV0005909 10 10q21.3 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005910 11 11p13 - - - de novo CNVs; Brandler WM, 2018
AutCNV0005911 11 11p12 gain - - de novo CNVs; Brandler WM, 2018
AutCNV0005912 12 12q12 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005913 12 12q21.2 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005914 12 12q22 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005915 12 12q24.11 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005916 12 12q24.22 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005917 13 13q12.11 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005918 14 14q23.1 - - - de novo CNVs; Brandler WM, 2018
AutCNV0005919 14 14q23.2 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005920 15 15q11.2 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005921 15 15q11.2-q13.1 gain - - de novo CNVs; Brandler WM, 2018
AutCNV0005922 15 15q13.1-q13.3 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005923 15 15q26.1 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005924 16 16p13.11 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005925 16 16p11.2 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005926 16 16q21 - - - de novo CNVs; Brandler WM, 2018
AutCNV0005927 17 17p12 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005928 17 17p11.2 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005929 17 17q11.2 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005930 19 19q13.32 gain - - de novo CNVs; Brandler WM, 2018
AutCNV0005931 20 20p12.1 loss - - de novo CNVs; Brandler WM, 2018

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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