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
AutCNV0005857 18 18q23 Gain - - Egger G, 2014
AutCNV0005858 18 18q23 Gain - - Egger G, 2014
AutCNV0005859 19 19p13.2 Gain - - Egger G, 2014
AutCNV0005860 21 21q22.11 Gain - - Egger G, 2014
AutCNV0005861 X "Xp22.11,Xp21.3" Gain - - Egger G, 2014
AutCNV0005862 X Xq13.1 Gain - - Egger G, 2014
AutCNV0005863 X Xq23 Gain - - Egger G, 2014
AutCNV0005864 21 - Loss - - de novo CNVs; Deciphering Developmental Disorders Study., 2015
AutCNV0005865 X - Gain - - Deciphering Developmental Disorders Study., 2015
AutCNV0005866 3 - Loss - - de novo CNVs; Deciphering Developmental Disorders Study., 2015
AutCNV0005867 18 - Loss - - de novo CNVs; Deciphering Developmental Disorders Study., 2015
AutCNV0005868 10 10q25.1 Gain - - Alvarez-Mora MI, 2016
AutCNV0005869 15 15q11.2 Gain - - Alvarez-Mora MI, 2016
AutCNV0005870 8 8p23.3 Loss - - Alvarez-Mora MI, 2016
AutCNV0005871 15 15q11.2 Gain - - Alvarez-Mora MI, 2016
AutCNV0005872 X Xp22.33 Gain - - de novo CNVs; Alvarez-Mora MI, 2016
AutCNV0005873 Y Yp11.32p11.31 Gain - - de novo CNVs; Alvarez-Mora MI, 2016
AutCNV0005874 1 1p36.32 gain - - de novo CNVs; Brandler WM, 2018
AutCNV0005875 1 1p36.22 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005876 1 1p32.3 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005877 1 1p22.2 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005878 1 1q23.3 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005879 2 2p13.1 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005880 2 2q11.2-q13 gain - - de novo CNVs; Brandler WM, 2018
AutCNV0005881 2 2q23.3 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


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