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:3 ( 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
AutCNV0004905 3 3p26.3 gain - - CNVs Only Present In Patients; Hu J, 2015
AutCNV0004906 3 3p26.3 gain - - CNVs Only Present In Patients; Hu J, 2015
AutCNV0004907 3 3p26.3 gain - - CNVs Only Present In Patients; Hu J, 2015
AutCNV0004943 3 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004948 3 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004967 3 3p14 loss - - CNVs Only Present In Patients; de novo CNVs; Okumura A, 2014
AutCNV0004975 3 3q29 - - - CNVs Only Present In Patients; de novo CNVs; Sanders SJ, 2015
AutCNV0005000 3 3p24.3 gain - - CNVs Only Present In Patients; Al-Mamari W, 2015
AutCNV0005003 3 q27.3q29 gain - - CNVs Only Present In Patients; de novo CNVs; Al-Mamari W, 2015
AutCNV0005005 3 3p26.3 gain - - CNVs Only Present In Patients; Al-Mamari W, 2015
AutCNV0005008 3 3p26.3 gain - - CNVs Only Present In Patients; Al-Mamari W, 2015
AutCNV0005013 3 3p26.1 loss - - CNVs Only Present In Patients; de novo CNVs; Liu Y, 2015
AutCNV0005037 3 3q29 loss - - CNVs Only Present In Patients; Cox DM, 2015
AutCNV0005040 3 3q24 loss - - CNVs Only Present In Patients; Cardon M, 2016
AutCNV0005050 3 3q22.1 loss - - CNVs Only Present In Patients; Jiménez-Barrón LT, 2015
AutCNV0005087 3 3q13.3 gain - - CNVs Only Present In Patients; Siu WK, 2016
AutCNV0005094 3 3p26.3 gain - - CNVs Only Present In Patients; Li C, 2016
AutCNV0005106 3 3q13.2q13.31 loss 1 - CNVs Only Present In Patients; de novo CNVs; Quintela I, 2015
AutCNV0005112 3 3p14.2 loss - - CNVs Only Present In Patients; Kanduri C, 2016
AutCNV0005124 3 3q29 loss - - CNVs Only Present In Patients; de novo CNVs; Biamino E, 2016
AutCNV0005140 3 3q24 gain - - CNVs Only Present In Patients; de novo CNVs; Soueid J, 2016
AutCNV0005621 3 3 loss - - de novo CNVs; Mercati O, 2017
AutCNV0005625 3 3 gain - - de novo CNVs; Mercati O, 2017
AutCNV0005677 3 3 - - - Krumm N, 2015
AutCNV0005679 3 3 - - - Krumm N, 2015

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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