AutismKB 2.0

View CNVs/SVs


View by Evidence Type: de novo CNVs ( 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:20 ( 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
AutCNV0000013 20 20p13 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000014 20 20p13 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000155 20 20q13.33 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000968 20 20p12.1 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0004376 20 20p12.1 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004845 20 20q13.32 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0005031 20 20p13.3 gain - - CNVs Only Present In Patients; de novo CNVs; Eriksson MA, 2015
AutCNV0005637 20 20 - - - de novo CNVs; Krumm N, 2015
AutCNV0005640 20 20 - - - de novo CNVs; Krumm N, 2015
AutCNV0005743 20 - Gain - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017
AutCNV0005931 20 20p12.1 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005932 20 20q11.21 gain - - de novo CNVs; Brandler WM, 2018
AutCNV0005933 20 20q13.33 gain - - 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