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: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
AutCNV0000045 14 14q11.2 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000223 14 14q23.1 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000341 14 14q21.3 loss 8 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000367 14 14q13.1 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000422 14 14q32.33 Loss 3 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000423 14 14q32.33 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000570 14 14q11.2 Loss 10 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000571 14 14q11.1-11.2 Loss 9 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000572 14 14q11.1-11.2 Gain 4 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000573 14 14q11.1-11.2 Loss 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000574 14 14q11.1-11.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000575 14 14q11.1-11.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000846 14 14q11.2 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0000865 14 14q31.2 gain 1 - Pinto, 2010
AutCNV0000934 14 14q13.1 gain 1 - Pinto, 2010
AutCNV0000935 14 14q21.2-21.3 gain 1 - Pinto, 2010
AutCNV0000936 14 14q21.3 gain 1 - Pinto, 2010
AutCNV0000951 14 14q21.3 gain 1 - Pinto, 2010
AutCNV0001133 14 14q21.2 loss 1 - Pinto, 2010
AutCNV0001134 14 14q21.2 loss 1 - Pinto, 2010
AutCNV0001135 14 14q21.3 loss 1 - Pinto, 2010
AutCNV0001136 14 14q23.2 gain 1 - Pinto, 2010
AutCNV0001137 14 14q23.3 loss 1 - Pinto, 2010
AutCNV0001138 14 14q31.3 loss 1 - Pinto, 2010
AutCNV0001322 14 14q12 loss 1 - Pinto, 2010

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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