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:1 ( 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
AutCNV0005645 1 1 - - - de novo CNVs; Krumm N, 2015
AutCNV0005660 1 1 - - - Krumm N, 2015
AutCNV0005662 1 1 - - - Krumm N, 2015
AutCNV0005673 1 1 - - - Krumm N, 2015
AutCNV0005694 1 - 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
AutCNV0005701 1 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005754 1 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005780 1 1q21.1-q21.2 Gain - - Kalsner L, 2018
AutCNV0005783 1 1q31.1 Loss - - Kalsner L, 2018
AutCNV0005801 1 1q23.3 Gain 1 - Woodbury-Smith M, 2017
AutCNV0005802 1 1q21.1 Loss - - Woodbury-Smith M, 2017
AutCNV0005810 1 1q24.3 gain - - Egger G, 2014
AutCNV0005811 1 1q31.3 Loss - - Egger G, 2014
AutCNV0005812 1 1q41 Gain - - Egger G, 2014
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
AutCNV0005941 1 1q21.1-q21.2 gain - - 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