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:All ( 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
AutCNV0000652 20 20q13.12 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000653 20 20q13.12 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000654 21 21p11.1-11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000655 22 22q11.1 Loss 27 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000656 22 22q11.1 Gain 8 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000657 22 22q11.1 Gain 5 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000658 22 22q11.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000659 22 22q11.23-12.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000660 22 22q13.31 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000661 5 5q14.3 loss 1 - Overlapping/Recurrent CNVs; Novara, 2010
AutCNV0000662 5 5q14.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Novara, 2010
AutCNV0000663 2 2q14.3 loss 2 - Overlapping/Recurrent CNVs; Pagnamenta, 2010
AutCNV0000664 2 2q14.3 loss 1 - Overlapping/Recurrent CNVs; Pagnamenta, 2010
AutCNV0000665 7 7q31.1 loss 1 - Overlapping/Recurrent CNVs; Pagnamenta, 2010
AutCNV0000666 7 7q31.1 loss 1 - Overlapping/Recurrent CNVs; Pagnamenta, 2010
AutCNV0000667 7 7q31.1 loss 1 - Overlapping/Recurrent CNVs; Pagnamenta, 2010
AutCNV0000668 7 7q31.1 loss 1 - Overlapping/Recurrent CNVs; Pagnamenta, 2010
AutCNV0000669 16 16p11.2 loss 1 1 CNVs Only Present In Patients; Shen, 2010
AutCNV0000670 10 10q25.3 loss 1 - de novo CNVs; Stark, 2010
AutCNV0000671 X Xp22.1-p22.3 loss 1 - CNVs Only Present In Patients; Vazna, 2010
AutCNV0000672 13 13q21.2 loss 1 - Overlapping/Recurrent CNVs; Vorstman, 2010
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
AutCNV0000676 15 15q11-13 gain 2 - Overlapping/Recurrent CNVs; Bremer, 2009

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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