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:14 ( 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
AutCNV0000341 14 14q21.3 loss 8 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000846 14 14q11.2 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0004309 14 14q11.2 gain 1 - de novo CNVs; Sanders, 2011
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
AutCNV0004659 14 - loss - - CNVs Only Present In Patients; de novo CNVs; Laplana M, 2014
AutCNV0004890 14 14q11.2 loss - - CNVs Only Present In Patients; de novo CNVs; Prontera P, 2014
AutCNV0004985 14 14q11.2 loss - - CNVs Only Present In Patients; de novo CNVs; Drabova J, 2015
AutCNV0005125 14 14q11.2 loss - - CNVs Only Present In Patients; de novo CNVs; Stolerman ES, 2016
AutCNV0005160 14 14q11.2 loss - - CNVs Only Present In Patients; de novo CNVs; Smyk M, 2016
AutCNV0005601 14 14q12 gain 1 - CNVs Only Present In Patients; de novo CNVs; Castermans D, 2008
AutCNV0005918 14 14q23.1 - - - de novo CNVs; Brandler WM, 2018
AutCNV0005919 14 14q23.2 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