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
AutCNV0005932 20 20q11.21 gain - - de novo CNVs; Brandler WM, 2018
AutCNV0005933 20 20q13.33 gain - - de novo CNVs; Brandler WM, 2018
AutCNV0005934 22 22q12.3 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005935 22 22q13.33 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005936 22 22q13.33 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005937 X Xp21.1 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005938 X Xp11.22 - - - de novo CNVs; Brandler WM, 2018
AutCNV0005939 X Xq22.1 gain - - de novo CNVs; Brandler WM, 2018
AutCNV0005940 X Xq28 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005941 1 1q21.1-q21.2 gain - - Brandler WM, 2018
AutCNV0005942 7 7q11.23 gain - - de novo CNVs; Brandler WM, 2018
AutCNV0005943 15 15q11.2 loss - - Brandler WM, 2018
AutCNV0005944 15 15q11.2-q13.1 gain - - de novo CNVs; Brandler WM, 2018
AutCNV0005945 15 15q11.2-q13.1 - - - Brandler WM, 2018
AutCNV0005946 15 15q13.1-q13.3 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005947 16 16p13.11 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005948 16 16p13.11 gain - - Brandler WM, 2018
AutCNV0005949 16 16p13.11-p12.3 gain - - Brandler WM, 2018
AutCNV0005950 16 16p11.2 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005951 22 22q13.33 loss - - de novo CNVs; Brandler WM, 2018

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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