AutismKB 2.0

View CNVs/SVs


View by Evidence Type: CNVs Only Present In Patients ( 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:22 ( 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
AutCNV0004932 22 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004933 22 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004934 22 - gain - - CNVs Only Present In Patients; Tammimies K, 2015
AutCNV0004962 22 22q11.22 loss 130 0 CNVs Only Present In Patients; Significant Enriched CNVs; Hadley D, 2014
AutCNV0004984 22 22q11.21 - - - CNVs Only Present In Patients; de novo CNVs; Sanders SJ, 2015
AutCNV0004988 22 22q11.21 loss - - CNVs Only Present In Patients; de novo CNVs; Al-Mamari W, 2015
AutCNV0004995 22 22q11.21 loss - - CNVs Only Present In Patients; Al-Mamari W, 2015
AutCNV0005032 22 22q13.31q13.33 loss - - CNVs Only Present In Patients; Eriksson MA, 2015
AutCNV0005033 22 22q13.33 loss - - CNVs Only Present In Patients; de novo CNVs; Eriksson MA, 2015
AutCNV0005044 22 22q13.3 loss - - CNVs Only Present In Patients; Philippe A, 2015
AutCNV0005120 22 22q11.21 loss - - CNVs Only Present In Patients; Kanduri C, 2016
AutCNV0005121 22 22q11.21 gain - - CNVs Only Present In Patients; Kanduri C, 2016
AutCNV0005163 22 22q13.33 loss - - CNVs Only Present In Patients; de novo CNVs; Breckpot J, 2016
AutCNV0005164 22 22q11.22 loss 1 - CNVs Only Present In Patients; Kaufman CS, 2016
AutCNV0005698 22 - Loss - - CNVs Only Present In Patients; de novo CNVs; Yuen RK, 2016
AutCNV0005769 22 - Loss - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017
AutCNV0005770 22 - Loss - - CNVs Only Present In Patients; de novo CNVs; C Yuen RK, 2017

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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