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
AutCNV0000705 11 11q13.3 Loss null null CNVs Not Present In Control; de novo CNVs; Berkel, 2010
AutCNV0000704 8 8p22 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000700 8 8p21 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000701 X Xq13.2 Gain null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000706 5 5q14.3 loss 1 - CNVs Only Present In Patients; Ezugha, 2010
AutCNV0000707 11 11p14.2-13 loss 1 - CNVs Only Present In Patients; Shinawi, 2011
AutCNV0000708 12 12p11.1-12.1 loss 1 - de novo CNVs; Soysal, 2011
AutCNV0000709 2 2p16.3 loss 1 - CNVs Only Present In Patients; Soysal, 2011
AutCNV0000710 22 22q13.2-qter loss 1 - CNVs Only Present In Patients; Chen, 2011
AutCNV0000711 X Xp21.1 gain 2 1 Overlapping/Recurrent CNVs; Pagnamenta, 2011
AutCNV0000712 9 9q21 loss 2 1 Overlapping/Recurrent CNVs; Pagnamenta, 2011
AutCNV0000713 X Xp11.2-p22.33 gain 1 - CNVs Only Present In Patients; Edens, 2011
AutCNV0000714 X Xp11.22-p11.23 gain 1 - CNVs Only Present In Patients; Edens, 2011
AutCNV0000715 2 2p16.3 loss 1 - CNVs Only Present In Patients; Bremer, 2011
AutCNV0000716 3 3q27.2-q29 loss 1 - de novo CNVs; Bremer, 2011
AutCNV0000717 15 15q13.2-q13.3 gain 1 - CNVs Only Present In Patients; Bremer, 2011
AutCNV0000718 16 16p13.3 gain 1 - CNVs Only Present In Patients; Bremer, 2011
AutCNV0000719 16 16p11.2 gain 2 - Overlapping/Recurrent CNVs; Bremer, 2011
AutCNV0000720 17 17p13.3 gain 1 - de novo CNVs; Bremer, 2011
AutCNV0000721 17 17p11.2 gain 1 - de novo CNVs; Bremer, 2011
AutCNV0000722 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; Bremer, 2011
AutCNV0000723 22 22q11.21-q11.22 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Bremer, 2011
AutCNV0000724 22 22q13 loss 1 - de novo CNVs; Bremer, 2011
AutCNV0000725 9 9q33.1 loss 1 - CNVs Only Present In Patients; Bremer, 2011
AutCNV0000726 9 9p24.1-p24.2 gain 1 - CNVs Only Present In Patients; Bremer, 2011

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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