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:2 ( 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
AutCNV0000673 2 2p16.3 loss 3 2 Overlapping/Recurrent CNVs; Wisniowiecka-Kowalnik, 2010
AutCNV0000674 2 2p16.3 gain 1 - Overlapping/Recurrent CNVs; Wisniowiecka-Kowalnik, 2010
AutCNV0000675 2 2p16.3 gain 1 - Overlapping/Recurrent CNVs; Wisniowiecka-Kowalnik, 2010
AutCNV0000691 2 2p23.1 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000709 2 2p16.3 loss 1 - CNVs Only Present In Patients; Soysal, 2011
AutCNV0000715 2 2p16.3 loss 1 - CNVs Only Present In Patients; Bremer, 2011
AutCNV0000763 2 2p16.3 loss 1 - Pinto, 2010
AutCNV0000783 2 2q23.1 gain 1 - Pinto, 2010
AutCNV0000784 2 2q31.1 loss 1 - Pinto, 2010
AutCNV0000816 2 2p16.3 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0000827 2 2p16.3 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000828 2 2p16.3 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000829 2 2p16.3 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000830 2 2q31.2 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000869 2 2q21.1 gain 1 - Pinto, 2010
AutCNV0000872 2 2p22.1 loss 1 - Pinto, 2010
AutCNV0000873 2 2p12 gain 1 - Pinto, 2010
AutCNV0000921 2 2p22.3 loss 1 - Pinto, 2010
AutCNV0000943 2 2p22.3 gain 1 - Pinto, 2010
AutCNV0000993 2 2p23.1 loss 1 - Pinto, 2010
AutCNV0000994 2 2p22.1 gain 1 - Pinto, 2010
AutCNV0000995 2 2p16.3 loss 1 - Pinto, 2010
AutCNV0000996 2 2p16.3 loss 1 - Pinto, 2010
AutCNV0000997 2 2p12 loss 1 - Pinto, 2010
AutCNV0000998 2 2p12 loss 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