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
AutCNV0004527 9 9p23 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004528 1 1q42.13 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004529 4 4q22.1 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004530 9 9p24.1 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004531 11 11p15.1 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004532 19 19q13.2 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004533 13 13q21.1 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004534 9 9p22.3 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004535 8 8p23.2 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004536 X Xq27.3 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004537 11 11p14.3 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004538 6 6p24.3 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004539 22 22q13.2 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004540 18 18q21.32 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004541 1 1q31.2 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004542 7 7q35 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004543 15 15q13.3 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004544 X Xq28 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004545 1 1q21.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004546 1 1q31.3 Gain 1 - de novo CNVs; Patircia, 2011
AutCNV0004547 1 1q31.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004548 1 1q31.3 Gain 1 - de novo CNVs; Patircia, 2011
AutCNV0004549 2 2q13 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004550 4 4q13.2 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004551 3 3p26.1 Loss 1 - de novo CNVs; Patircia, 2011

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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