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: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
AutCNV0000999 2 2p11.2 loss 1 - Pinto, 2010
AutCNV0001000 2 2p11.2 gain 1 - Pinto, 2010
AutCNV0001001 2 2p11.2 gain 1 - Pinto, 2010
AutCNV0001002 2 2p11.2 gain 1 - Pinto, 2010
AutCNV0001003 2 2p11.2 gain 1 - Pinto, 2010
AutCNV0001004 2 2q11.2 gain 1 - Pinto, 2010
AutCNV0001005 2 2q13 loss 1 - Pinto, 2010
AutCNV0001006 2 2q14.1 gain 1 - Pinto, 2010
AutCNV0001007 2 2q14.1 gain 1 - Pinto, 2010
AutCNV0001008 2 2q22.1 loss 1 - Pinto, 2010
AutCNV0001009 2 2q24.1 loss 1 - Pinto, 2010
AutCNV0001010 2 2q32.3 gain 1 - Pinto, 2010
AutCNV0001011 2 2q33.1 gain 1 - Pinto, 2010
AutCNV0001012 2 2q33.1 gain 1 - Pinto, 2010
AutCNV0001188 2 2p25.2 gain 1 - Pinto, 2010
AutCNV0001189 2 2p22.3 loss 1 - Pinto, 2010
AutCNV0001190 2 2p12 loss 1 - Pinto, 2010
AutCNV0001191 2 2p12 gain 1 - Pinto, 2010
AutCNV0001192 2 2q13 gain 1 - Pinto, 2010
AutCNV0001193 2 2q22.1 loss 1 - Pinto, 2010
AutCNV0001194 2 2q31.1 gain 1 - Pinto, 2010
AutCNV0001195 2 2q32.1 loss 1 - Pinto, 2010
AutCNV0001196 2 2q37.1 loss 1 - Pinto, 2010
AutCNV0001197 2 2q37.1 gain 1 - Pinto, 2010
AutCNV0001198 2 2q37.2 gain 1 - Pinto, 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


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