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:X ( 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
AutCNV0005155 X Xp22.33 gain - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005162 X Xq28 gain 1 - CNVs Only Present In Patients; de novo CNVs; Brownstein CA, 2016
AutCNV0005626 X X loss - - CNVs Only Present In Patients; Mercati O, 2017
AutCNV0005641 X X - - - de novo CNVs; Krumm N, 2015
AutCNV0005744 X - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005745 X - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005746 X - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005747 X - Gain - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005748 X - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005749 X - Gain - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005750 X - Gain - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005751 X - Gain - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005752 X - Gain - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005753 X - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005771 X - Gain - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005772 X - Gain - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005773 X - Gain - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005774 X - Gain - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005800 X - Gain 1 - de novo CNVs; Woodbury-Smith M, 2017
AutCNV0005861 X "Xp22.11,Xp21.3" Gain - - Egger G, 2014
AutCNV0005862 X Xq13.1 Gain - - Egger G, 2014
AutCNV0005863 X Xq23 Gain - - Egger G, 2014
AutCNV0005865 X - Gain - - Deciphering Developmental Disorders Study., 2015
AutCNV0005872 X Xp22.33 Gain - - de novo CNVs; Alvarez-Mora MI, 2016
AutCNV0005937 X Xp21.1 loss - - 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