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:21 ( 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
AutCNV0000134 21 21q22 loss 1 - de novo CNVs; Jacquemont, 2006
AutCNV0000156 21 21q22.3 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000965 21 21q22.3 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0004915 21 - - - - de novo CNVs; Tammimies K, 2015
AutCNV0005636 21 21 - - - de novo CNVs; Krumm N, 2015
AutCNV0005864 21 - Loss - - de novo CNVs; Deciphering Developmental Disorders Study., 2015

Page Counts: 1/1  
 1 

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