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
AutCNV0002927 17 17p11.2 gain 1 - Pinto, 2010
AutCNV0002928 17 17p11.2 gain 1 - Pinto, 2010
AutCNV0002929 17 17p11.2 gain 1 - Pinto, 2010
AutCNV0002930 17 17p11.2 gain 1 - Pinto, 2010
AutCNV0002931 17 17p11.2 gain 1 - Pinto, 2010
AutCNV0002932 17 17q11.2 gain 1 - Pinto, 2010
AutCNV0002933 17 17q12 loss 1 - Pinto, 2010
AutCNV0002934 17 17q12 gain 1 - Pinto, 2010
AutCNV0002935 17 17q22 loss 1 - Pinto, 2010
AutCNV0002936 17 17q23.3 loss 1 - Pinto, 2010
AutCNV0002937 17 17q23.3 loss 1 - Pinto, 2010
AutCNV0002938 17 17q23.3 loss 1 - Pinto, 2010
AutCNV0002939 17 17q23.3 loss 1 - Pinto, 2010
AutCNV0002940 17 17q24.2 loss 1 - Pinto, 2010
AutCNV0002941 17 17q25.2 gain 1 - Pinto, 2010
AutCNV0002942 18 18p11.23 loss 1 - Pinto, 2010
AutCNV0002943 18 18p11.21-11.22 gain 1 - Pinto, 2010
AutCNV0002944 18 18p11.21 gain 1 - Pinto, 2010
AutCNV0002945 18 18q11.2 loss 1 - Pinto, 2010
AutCNV0002946 18 18q12.2 loss 1 - Pinto, 2010
AutCNV0002947 18 18q12.3 loss 1 - Pinto, 2010
AutCNV0002948 18 18q21.2 gain 1 - Pinto, 2010
AutCNV0002949 18 18q22.2-22.3 gain 1 - Pinto, 2010
AutCNV0002950 18 18q22.2 gain 1 - Pinto, 2010
AutCNV0002951 18 18q22.3 loss 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