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
AutCNV0004757 9 - loss - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004758 9 - gain - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004759 9 - gain - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004760 9 - gain - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004761 9 - gain - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004762 9 - gain - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004763 9 - gain - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004764 9 - gain - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004765 9 - gain - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004766 9 - gain - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004767 9 - gain - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004768 1 - gain - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004769 1 - loss - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004770 1 - gain - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004771 2 2p16.31 loss - - de novo CNVs; Vi?as-Jornet M, 2014
AutCNV0004772 2 2q21.3 loss - - CNVs Only Present In Patients; Vi?as-Jornet M, 2014
AutCNV0004773 5 5q12.1 gain - - CNVs Only Present In Patients; Vi?as-Jornet M, 2014
AutCNV0004774 2 2p16.31 loss - - CNVs Only Present In Patients; Vi?as-Jornet M, 2014
AutCNV0004775 15 15q22.3 loss - - CNVs Only Present In Patients; Vi?as-Jornet M, 2014
AutCNV0004776 2 2p16.31 loss - - CNVs Only Present In Patients; Vi?as-Jornet M, 2014
AutCNV0004777 6 6q22.31 loss - - CNVs Only Present In Patients; Vi?as-Jornet M, 2014
AutCNV0004778 8 8q13.2 gain - - CNVs Only Present In Patients; Vi?as-Jornet M, 2014
AutCNV0004779 10 10q25.3 gain - - CNVs Only Present In Patients; Vi?as-Jornet M, 2014
AutCNV0004780 10 10q24.31 gain - - CNVs Only Present In Patients; Al-Sarraj Y, 2014
AutCNV0004781 9 9p24.3 gain - - CNVs Only Present In Patients; Bonora E, 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