AutismKB 2.0

View CNVs/SVs


View by Evidence Type: CNVs Only Present In Patients ( 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
AutCNV0000374 17 17p11.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000375 19 19p12 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000376 19 19q13.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000377 19 19q13.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000378 19 19q13.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000379 19 19q13.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000380 19 19q13.42 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000381 19 19q13.42 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000382 22 22q12.3 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000383 22 22q13.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000384 22 22q13.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000385 22 22q13.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000386 22 22q13.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000387 X Xp11.4 gain 1 - CNVs Only Present In Patients; Noor, 2009
AutCNV0000392 22 22q11.2 gain 1 - CNVs Only Present In Patients; Ramelli, 2008
AutCNV0000399 15 15q11.2 gain 3 0 CNVs Only Present In Patients; van der Zwaag, 2009
AutCNV0000669 16 16p11.2 loss 1 1 CNVs Only Present In Patients; Shen, 2010
AutCNV0000671 X Xp22.1-p22.3 loss 1 - CNVs Only Present In Patients; Vazna, 2010
AutCNV0000679 7 7q31.1 gain 1 - CNVs Only Present In Patients; Maestrini, 2009
AutCNV0000686 15 15q21.3 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000687 3 3q22.3 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000688 6 6q27 Gain null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000689 12 12q21.2 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000690 17 17q21.31 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000691 2 2p23.1 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010

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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