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
AutCNV0004577 5 5q35.3 Loss 1 - CNVs Only Present In Patients; Patircia, 2011
AutCNV0004578 17 17q25.3 Loss 1 - CNVs Only Present In Patients; Patircia, 2011
AutCNV0004579 22 22q13.1 Loss 1 - CNVs Only Present In Patients; Patircia, 2011
AutCNV0004580 1 1q21.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004581 4 4q13.2 Gain 1 - de novo CNVs; Patircia, 2011
AutCNV0004582 5 5q13.2 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004583 5 5q13.2 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004584 5 5q13.2 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004585 7 7q22.1 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004586 7 7q22.1 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004587 7 7q22.1 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004588 14 14q24.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004589 14 14q24.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004590 14 14q24.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004591 14 14q24.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004592 14 14q24.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004593 14 14q24.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004594 14 14q24.3 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004595 17 17q21.32 Gain 1 - de novo CNVs; Patircia, 2011
AutCNV0004596 19 19q13.41 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004597 X Xq12 Loss 1 - CNVs Only Present In Patients; Patircia, 2011
AutCNV0004598 X Xq28 Loss 1 - CNVs Only Present In Patients; Patircia, 2011
AutCNV0004599 X Xq28 Loss 1 - CNVs Only Present In Patients; Patircia, 2011
AutCNV0004600 3 3q16.32 Loss 1 - de novo CNVs; van Daalen, 2011
AutCNV0004601 11 11q22.1 Loss 1 - CNVs Only Present In Patients; van Daalen, 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