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: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
AutCNV0004588 14 14q24.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004589 14 14q24.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004590 14 14q24.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004591 14 14q24.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004592 14 14q24.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004593 14 14q24.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004594 14 14q24.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004595 17 17q21.32 Gain 1 - de novo CNVs; Patircia, 2011
AutCNV0004596 19 19q13.41 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004600 3 3q16.32 Loss 1 - de novo CNVs; van Daalen, 2011
AutCNV0004603 3 3p26 Gain 1 - de novo CNVs; van Daalen, 2011
AutCNV0004604 3 3p14.1 Loss 1 - de novo CNVs; van Daalen, 2011
AutCNV0004605 7 7p22.1 Loss 1 - de novo CNVs; van Daalen, 2011
AutCNV0004606 12 12q15 Loss 1 - de novo CNVs; van Daalen, 2011
AutCNV0004607 2 2p16.1 Gain 1 - de novo CNVs; van Daalen, 2011
AutCNV0004609 8 8p23.1 Loss 1 - de novo CNVs; van Daalen, 2011
AutCNV0004611 22 22q11.2 Gain 1 - de novo CNVs; Chen, 2011
AutCNV0004612 7 7q11.23 Gain 1 - de novo CNVs; Malenfant, 2011
AutCNV0004617 9 9p24 loss - - CNVs Only Present In Patients; de novo CNVs; Yang, 2012
AutCNV0004620 4 4q32-34 loss - - CNVs Only Present In Patients; de novo CNVs; Ramanathan, 2004
AutCNV0004621 22 22q13 loss - - CNVs Only Present In Patients; de novo CNVs; Durand, 2007
AutCNV0004625 11 11p14.1-p13 loss - - CNVs Only Present In Patients; de novo CNVs; Davis, 2008
AutCNV0004638 3 3p13 loss 1 - CNVs Only Present In Patients; de novo CNVs; Hamdan, 2010
AutCNV0004659 14 - loss - - CNVs Only Present In Patients; de novo CNVs; Laplana M, 2014
AutCNV0004666 18 18q12.1 gain - - CNVs Only Present In Patients; de novo CNVs; Wang P, 2013

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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