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:8 ( 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
AutCNV0000121 8 8p23.2 gain 1 - de novo CNVs; Szatmari, 2007
AutCNV0000145 8 8p23.3 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000533 8 8q22.2 Gain 1 - de novo CNVs; Gregory, 2009
AutCNV0000681 8 8p23.1 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Ozgen, 2009
AutCNV0000813 8 8p23.3 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0000819 8 8q12.3-13.1 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000967 8 8q24.3 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0001401 8 8q11.21 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0001488 8 8p23.2 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0001489 8 8q13.1 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0003816 8 8p23.2 loss 1 - de novo CNVs; Levy, 2011
AutCNV0003817 8 8p11.23 loss 1 - de novo CNVs; Levy, 2011
AutCNV0004273 8 8p23.3 gain 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004276 8 8q11.21 gain 1 - de novo CNVs; Sanders, 2011
AutCNV0004277 8 8q12.3-q13.1 loss 1 - de novo CNVs; Sanders, 2011
AutCNV0004609 8 8p23.1 Loss 1 - de novo CNVs; van Daalen, 2011
AutCNV0005098 8 8q22.2q22.3 loss 1 - CNVs Only Present In Patients; de novo CNVs; Sinajon P, 2015
AutCNV0005900 8 8p23.2 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005902 8 8q24.3 gain - - 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