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  )


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Notes: ACRD: Autism Chromosome Rearrangement Database
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000552 10 10q21.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000553 10 10q23.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000554 10 10q23.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000555 10 10q26.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000556 10 10q26.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000557 10 10q26.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000558 10 10q26.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000559 10 10q26.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000560 10 10q26.3 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000561 11 11p15.5 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000562 11 11p15.5 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000563 11 11p13 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000564 11 11q24.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000565 12 12p11.21 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000566 12 12p11.21 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000567 12 12p11.21 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000568 12 12p11.1-11.21 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000569 13 13q11-12.11 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000570 14 14q11.2 Loss 10 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000571 14 14q11.1-11.2 Loss 9 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000572 14 14q11.1-11.2 Gain 4 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000573 14 14q11.1-11.2 Loss 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000574 14 14q11.1-11.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000575 14 14q11.1-11.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000576 15 15q11.1-11.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 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