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:2 ( 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
AutCNV0005709 2 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005755 2 - Loss - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017
AutCNV0005782 2 2p16.3 Gain - - Kalsner L, 2018
AutCNV0005792 2 2q37.3 Gain - - Kalsner L, 2018
AutCNV0005795 2 2p25.2a Gain - - Kalsner L, 2018
AutCNV0005796 2 2p12 Gain - - Kalsner L, 2018
AutCNV0005798 2 2p16.3 Loss - - Woodbury-Smith M, 2017
AutCNV0005799 2 2q23.1 Loss - - Woodbury-Smith M, 2017
AutCNV0005804 2 2q36.3 Gain - - Toma C, 2014
AutCNV0005813 2 2p25.1 Loss - - Egger G, 2014
AutCNV0005814 2 2p23.3 gain - - Egger G, 2014
AutCNV0005815 2 2q21.2 Loss - - Egger G, 2014
AutCNV0005879 2 2p13.1 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005880 2 2q11.2-q13 gain - - de novo CNVs; Brandler WM, 2018
AutCNV0005881 2 2q23.3 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005882 2 2q24.2 loss - - de novo CNVs; Brandler WM, 2018
AutCNV0005883 2 2q32.2 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