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:5 ( 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
AutCNV0005790 5 5q35.3 Gain - - Kalsner L, 2018
AutCNV0005806 5 5p15.33 Gain - - Toma C, 2014
AutCNV0005807 5 5p15.2 Gain - - Toma C, 2014
AutCNV0005824 5 5q12.3 Gain - - Egger G, 2014
AutCNV0005887 5 5q13.3 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005888 5 5q15 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005889 5 5q31.2 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005890 5 5q32 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005891 5 5q35.3 loss - - de novo CNVs; Brandler WM, 2018

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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