AutismKB 2.0

View CNVs/SVs


View by Evidence Type: CNVs Only Present In Patients ( 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
AutCNV0005009 14 14q32.33 loss - - CNVs Only Present In Patients; Al-Mamari W, 2015
AutCNV0005039 14 14q23.3 loss - - CNVs Only Present In Patients; Hu J, 2015
AutCNV0005084 14 14q22.1 loss - - CNVs Only Present In Patients; Significant Enriched CNVs; Siu WK, 2016
AutCNV0005114 14 14q12 gain - - CNVs Only Present In Patients; Kanduri C, 2016
AutCNV0005125 14 14q11.2 loss - - CNVs Only Present In Patients; de novo CNVs; Stolerman ES, 2016
AutCNV0005136 14 14q12 - - - CNVs Only Present In Patients; Shin S, 2015
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
AutCNV0005726 14 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005727 14 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005728 14 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005729 14 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005730 14 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005731 14 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005732 14 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005733 14 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005764 14 - Gain - - CNVs Only Present In Patients; C Yuen RK, 2017

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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