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:All ( 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
AutCNV0005698 22 - Loss - - CNVs Only Present In Patients; de novo CNVs; Yuen RK, 2016
AutCNV0005699 16 - Loss - - CNVs Only Present In Patients; de novo CNVs; Yuen RK, 2016
AutCNV0005700 1 - Loss - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017
AutCNV0005702 2 - Loss - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017
AutCNV0005703 2 - Loss - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017
AutCNV0005716 7 - Loss - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017
AutCNV0005743 20 - Gain - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017
AutCNV0005755 2 - Loss - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017
AutCNV0005757 4 - Loss - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017
AutCNV0005761 11 - Loss - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017
AutCNV0005769 22 - Loss - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017
AutCNV0005770 22 - Loss - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017
AutCNV0005800 X - Gain 1 - de novo CNVs; Woodbury-Smith M, 2017
AutCNV0005864 21 - Loss - - de novo CNVs; Deciphering Developmental Disorders Study., 2015
AutCNV0005866 3 - Loss - - de novo CNVs; Deciphering Developmental Disorders Study., 2015
AutCNV0005867 18 - Loss - - de novo CNVs; Deciphering Developmental Disorders Study., 2015
AutCNV0005872 X Xp22.33 Gain - - de novo CNVs; Alvarez-Mora MI, 2016
AutCNV0005873 Y Yp11.32p11.31 Gain - - de novo CNVs; Alvarez-Mora MI, 2016
AutCNV0005874 1 1p36.32 gain - - de novo CNVs; Brandler WM, 2018
AutCNV0005875 1 1p36.22 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005876 1 1p32.3 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005877 1 1p22.2 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005878 1 1q23.3 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005879 2 2p13.1 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005880 2 2q11.2-q13 gain - - 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