AutismKB 2.0

View CNVs/SVs


View by Evidence Type: de novo 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  )


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Notes: ACRD: Autism Chromosome Rearrangement Database
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000390 1 1q21.1 loss 2 - Overlapping/Recurrent CNVs; de novo CNVs; Mefford, 2008
AutCNV0000391 2 2p25.2 loss 1 - de novo CNVs; Lo-Castro, 2009
AutCNV0000433 16 16q12.2 Loss 1 - de novo CNVs; Gregory, 2009
AutCNV0000479 3 3p21.1 Gain 1 - de novo CNVs; Gregory, 2009
AutCNV0000505 7 7p14.2 Loss 1 - de novo CNVs; Gregory, 2009
AutCNV0000506 7 7p14.2 Gain 1 - de novo CNVs; Gregory, 2009
AutCNV0000533 8 8q22.2 Gain 1 - de novo CNVs; Gregory, 2009
AutCNV0000544 9 9q33.2 Loss 1 - de novo CNVs; Gregory, 2009
AutCNV0000662 5 5q14.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Novara, 2010
AutCNV0000670 10 10q25.3 loss 1 - de novo CNVs; Stark, 2010
AutCNV0000681 8 8p23.1 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Ozgen, 2009
AutCNV0000683 16 16q24.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Willemsen, 2010
AutCNV0000684 16 16q24.2-24.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Willemsen, 2010
AutCNV0000685 16 16q24.2-24.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Willemsen, 2010
AutCNV0000702 11 11q13.3 Loss null null CNVs Not Present In Control; de novo CNVs; Berkel, 2010
AutCNV0000705 11 11q13.3 Loss null null CNVs Not Present In Control; de novo CNVs; Berkel, 2010
AutCNV0000708 12 12p11.1-12.1 loss 1 - de novo CNVs; Soysal, 2011
AutCNV0000716 3 3q27.2-q29 loss 1 - de novo 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
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
AutCNV0000728 1 1q25.3-q31.1 loss 1 - de novo CNVs; Bremer, 2011
AutCNV0000730 7 7p22.1 gain 1 - de novo CNVs; Bremer, 2011
AutCNV0000731 9 9q13-q21.31 loss 1 - de novo CNVs; Bremer, 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