AutismKB 2.0

View CNVs/SVs


View by Evidence Type: Overlapping/Recurrent 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:22 ( 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
AutCNV0000048 22 22q13.32-13.33 loss 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000189 22 22q11.2 gain 2 - Overlapping/Recurrent CNVs; Other; de novo CNVs; Marshall, 2008
AutCNV0000244 22 22q11.21 gain 2 - Overlapping/Recurrent CNVs; de novo CNVs; Christian, 2008
AutCNV0000435 22 22q11.22 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000436 22 22q11.22 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000437 22 22q11.22 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000438 22 22q11.22 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000439 22 22q11.22 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000440 22 22q13.1 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
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
AutCNV0003443 22 22q13.33 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003786 22 22q13.33 loss 3 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0004388 22 22q11.21 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004389 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; de novo CNVs; Sanders, 2011
AutCNV0004390 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004391 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004392 22 22q11.21-q11.22 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004396 22 22q13.31-q13.33 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011

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  (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