AutismKB 2.0

View CNVs/SVs


View by Evidence Type: Overlapping/Recurrent CNVs ( 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
AutCNV0000033 2 2p11.2 loss 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000054 2 2p25.3 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000055 2 2q32.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000056 2 2q32.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000057 2 2q32.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000307 2 2p24.3 gain 33 7 Overlapping/Recurrent CNVs; Glessner, 2009
AutCNV0000403 2 2p11.2 Loss 3 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000404 2 2p11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000405 2 2p11.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000406 2 2p11.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000407 2 2p11.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000408 2 2p11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000409 2 2q24.1-24.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000410 2 2q32.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000467 2 2p24.3 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000468 2 2p16.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000469 2 2p12 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000470 2 2p11.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000471 2 2q31.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000472 2 2q31.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000473 2 2q33.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000474 2 2q34 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000475 2 2q37.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000476 2 2q37.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000663 2 2q14.3 loss 2 - Overlapping/Recurrent CNVs; Pagnamenta, 2010

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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