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: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
AutCNV0000047 18 18q11.2 gain 3 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000118 18 18p11.21-11.22 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000154 18 18q21.32-23 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000239 18 18q22.3 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000303 18 18q12 loss 1 - de novo CNVs; Gilling, 2008
AutCNV0000326 18 18q12.1 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000330 18 18q12.2 loss - - CNVs Only Present In Patients; Harvard, 2005
AutCNV0000434 18 18p11.32 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000644 18 18q21.32 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000733 18 18q22.2-qter loss 1 - de novo CNVs; Bremer, 2011
AutCNV0000756 18 18p11.21 loss 1 - Pinto, 2010
AutCNV0000757 18 18q12.2 loss 1 - Pinto, 2010
AutCNV0000795 18 18q12.2 loss 1 - Pinto, 2010
AutCNV0000894 18 18p11.31 gain 1 - Pinto, 2010
AutCNV0001151 18 18p11.32 loss 1 - Pinto, 2010
AutCNV0001152 18 18q22.1 loss 1 - Pinto, 2010
AutCNV0001353 18 18p11.32 loss 1 - Pinto, 2010
AutCNV0001354 18 18p11.21 gain 1 - Pinto, 2010
AutCNV0001355 18 18q22.2 loss 1 - Pinto, 2010
AutCNV0001410 18 18p11.32 loss 1 - Pinto, 2010
AutCNV0002141 18 18p11.32 loss 1 - Pinto, 2010
AutCNV0002142 18 18p11.23-11.31 loss 1 - Pinto, 2010
AutCNV0002143 18 18q12.1 gain 1 - Pinto, 2010
AutCNV0002144 18 18q12.1 gain 1 - Pinto, 2010
AutCNV0002145 18 18q12.1 gain 1 - Pinto, 2010

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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