AutismKB 2.0

View CNVs/SVs


View by Evidence Type: de novo CNVs ( 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:13 ( 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
AutCNV0000009 13 13q14.12-14.13 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000123 13 13q14.2 gain 2 - de novo CNVs; Szatmari, 2007
AutCNV0003833 13 13q33.2 gain 1 - de novo CNVs; Levy, 2011
AutCNV0004562 13 13q21.1 Gain 1 - de novo CNVs; Patircia, 2011
AutCNV0004950 13 - gain - - CNVs Only Present In Patients; de novo CNVs; Brand H, 2015
AutCNV0005917 13 13q12.11 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