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: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
AutCNV0004627 15 15q11.2 loss - - CNVs Only Present In Patients; Davis, 2008
AutCNV0004628 17 17q12 loss - - CNVs Only Present In Patients; Davis, 2008
AutCNV0004629 X Xp21.1 loss 3 1 CNVs Only Present In Patients; Piton, 2008
AutCNV0004630 15 15q11-13 Gain 4 - CNVs Only Present In Patients; Cai, 2008
AutCNV0004631 22 22q11.2 Gain 2 - Cai, 2008
AutCNV0004632 7 7q11.23 Gain - - Cai, 2008
AutCNV0004633 17 17p11.2 loss - - Cai, 2008
AutCNV0004634 X Xp11.4 Gain - - Cai, 2008
AutCNV0004635 1 1p34.2-34.3 Loss 1 - Kumar, 2009
AutCNV0004636 1 1q42 loss 1 - CNVs Only Present In Patients; Williams, 2009
AutCNV0004637 1 1q42.2 Gain 2 - CNVs Only Present In Patients; Crepel, 2009
AutCNV0004638 3 3p13 loss 1 - CNVs Only Present In Patients; de novo CNVs; Hamdan, 2010
AutCNV0004639 12 12q14 loss 1 - CNVs Only Present In Patients; Lynch, 2011
AutCNV0004640 12 12q14 loss 1 - CNVs Only Present In Patients; Lynch, 2011
AutCNV0004646 15 15q26.1 loss 1 - CNVs Only Present In Patients; Kamien B, 2014
AutCNV0004647 1 - loss - - CNVs Only Present In Patients; Laplana M, 2014
AutCNV0004648 1 - gain - - CNVs Only Present In Patients; Laplana M, 2014
AutCNV0004649 1 - loss - - CNVs Only Present In Patients; Laplana M, 2014
AutCNV0004650 2 - gain - - CNVs Only Present In Patients; Laplana M, 2014
AutCNV0004651 3 - gain - - CNVs Only Present In Patients; Laplana M, 2014
AutCNV0004652 4 - gain - - CNVs Only Present In Patients; Laplana M, 2014
AutCNV0004653 6 - loss - - CNVs Only Present In Patients; Laplana M, 2014
AutCNV0004654 6 - loss - - CNVs Only Present In Patients; Laplana M, 2014
AutCNV0004655 8 - gain - - CNVs Only Present In Patients; Laplana M, 2014
AutCNV0004656 10 - gain - - CNVs Only Present In Patients; Laplana M, 2014

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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