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:12 ( 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
AutCNV0004823 12 12p11.22p11.21 loss 1 - CNVs Only Present In Patients; Chen CP, 2014
AutCNV0004839 12 12q24.23 gain - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004842 12 12q24.33 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004846 12 12q24.21 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0005047 12 12p13.33 - - - CNVs Only Present In Patients; Hashemi B, 2015
AutCNV0005135 12 12p11.23 - - - CNVs Only Present In Patients; Shin S, 2015
AutCNV0005652 12 12 - - - de novo CNVs; Krumm N, 2015
AutCNV0005661 12 12 - - - Krumm N, 2015
AutCNV0005663 12 12 - - - Krumm N, 2015
AutCNV0005664 12 12 - - - Krumm N, 2015
AutCNV0005725 12 - Gain - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005785 12 12q24.33 Gain - - Kalsner L, 2018
AutCNV0005841 12 12q24.11 Loss - - Egger G, 2014
AutCNV0005842 12 12q24.22 Gain - - Egger G, 2014
AutCNV0005843 12 12q24.33 Gain - - Egger G, 2014
AutCNV0005912 12 12q12 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005913 12 12q21.2 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005914 12 12q22 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005915 12 12q24.11 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005916 12 12q24.22 loss - - de novo CNVs; Brandler WM, 2018

Page Counts: 7/7  
First  Previous  5  6  7 

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