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
AutCNV0004453 5 5q23.1 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004454 5 5p15.2 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004499 5 5q31.2 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004505 5 5q22.1 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004510 5 5q23.1 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004553 5 5q13.2 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004577 5 5q35.3 Loss 1 - CNVs Only Present In Patients; Patircia, 2011
AutCNV0004582 5 5q13.2 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004583 5 5q13.2 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004584 5 5q13.2 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004773 5 5q12.1 gain - - CNVs Only Present In Patients; Vi?as-Jornet M, 2014
AutCNV0004840 5 5p15.2 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004963 5 5q11.1 loss 70 8 CNVs Only Present In Patients; Significant Enriched CNVs; Hadley D, 2014
AutCNV0004972 5 5q13.2 loss - - CNVs Only Present In Patients; Bacchelli E, 2015
AutCNV0004992 5 5q22.2 loss - - CNVs Only Present In Patients; Al-Mamari W, 2015
AutCNV0004994 5 5p12p11 gain - - CNVs Only Present In Patients; Al-Mamari W, 2015
AutCNV0005093 5 5q33.1 loss - - CNVs Only Present In Patients; Siu WK, 2016
AutCNV0005152 5 5q35.2 loss - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005157 5 - loss - - CNVs Only Present In Patients; de novo CNVs; Ba W, 2016
AutCNV0005165 5 5p13.2 gain 2 - CNVs Only Present In Patients; van Amen-Hellebrekers CJ, 2016
AutCNV0005166 5 5p13.2 gain 2 - CNVs Only Present In Patients; van Amen-Hellebrekers CJ, 2016
AutCNV0005667 5 5 - - - Krumm N, 2015
AutCNV0005714 5 - Loss - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005715 5 - Gain - - CNVs Only Present In Patients; C Yuen RK, 2017
AutCNV0005784 5 5q23.3 Loss - - Kalsner L, 2018

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  (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