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:16 ( 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
AutCNV0000611 16 16p11.2 Loss 4 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000612 16 16p11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000613 16 16p11.2 Loss 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000614 16 16p11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000615 16 16p11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000616 16 16p11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000617 16 16p11.2 Loss 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000618 16 16p11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000619 16 16p11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000620 16 16p11.2 Loss 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000621 16 16p11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000622 16 16p11.1-11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000623 16 16p11.1-11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000624 16 16q23.2-23.3 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000669 16 16p11.2 loss 1 1 CNVs Only Present In Patients; Shen, 2010
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
AutCNV0000695 16 16q24.3 Gain null null CNVs Not Present In Control; Berkel, 2010
AutCNV0000718 16 16p13.3 gain 1 - CNVs Only Present In Patients; Bremer, 2011
AutCNV0000719 16 16p11.2 gain 2 - Overlapping/Recurrent CNVs; Bremer, 2011
AutCNV0000741 16 16p13.2 gain 1 - Bremer, 2011
AutCNV0000742 16 16p13.11 gain 1 - Bremer, 2011
AutCNV0000743 16 16p12.1 loss 1 - Bremer, 2011
AutCNV0000755 16 16p12.1 loss 1 - Pinto, 2010

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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