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  )


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Notes: ACRD: Autism Chromosome Rearrangement Database
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000004 3 3p14.2 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000005 3 3p14.2 gain 1 - de novo CNVs; Sebat, 2007
AutCNV0000034 3 3p12.1 loss 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000058 3 3q25.31-25.32 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000059 3 3q25.31-25.32 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000128 3 3q27.2-29 loss 1 - de novo CNVs; Jacquemont, 2006
AutCNV0000138 3 3p14.1-13 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000139 3 3p25.1-24.3 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000194 3 3p26.3 loss 2 - Overlapping/Recurrent CNVs; Roohi, 2009
AutCNV0000195 3 3p26.3 gain 1 - CNVs Only Present In Patients; Roohi, 2009
AutCNV0000206 3 3p26.3 loss 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000207 3 3p26.2 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000208 3 3p14.1 loss 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000209 3 3q12.1 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000281 3 3q29 loss 1 - CNVs Only Present In Patients; Willatt, 2005
AutCNV0000308 3 3p26.1 loss 15 3 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0000309 3 3q21.1 gain 3 0 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0000310 3 3q26.31 gain 114 92 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0000318 3 3q21.3 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000319 3 3q22.3 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000328 3 3p24.3-25 loss 1 - de novo CNVs; Harvard, 2005
AutCNV0000336 3 3p14 loss 2 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000351 3 3p24.3 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000352 3 3q23 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000394 3 3q24 loss - - Other; Morrow, 2008

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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