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:18 ( 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
AutCNV0000154 18 18q21.32-23 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000303 18 18q12 loss 1 - de novo CNVs; Gilling, 2008
AutCNV0000733 18 18q22.2-qter loss 1 - de novo CNVs; Bremer, 2011
AutCNV0003861 18 18q21.2 gain 1 - de novo CNVs; Levy, 2011
AutCNV0003862 18 18q21.31 loss 1 - de novo CNVs; Levy, 2011
AutCNV0004666 18 18q12.1 gain - - CNVs Only Present In Patients; de novo CNVs; Wang P, 2013
AutCNV0005638 18 18 - - - de novo CNVs; Krumm N, 2015
AutCNV0005867 18 - Loss - - de novo CNVs; Deciphering Developmental Disorders Study., 2015

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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