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:17 ( 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
AutCNV0000639 17 17q21.31-21.32 Gain 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000640 17 17q21.31-21.32 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000641 17 17q25.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000642 17 17q25.3 Loss 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000643 17 17q25.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000690 17 17q21.31 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0000720 17 17p13.3 gain 1 - de novo CNVs; Bremer, 2011
AutCNV0000721 17 17p11.2 gain 1 - de novo CNVs; Bremer, 2011
AutCNV0000732 17 17p13.2 loss 1 - CNVs Only Present In Patients; Bremer, 2011
AutCNV0000805 17 17q12 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0000807 17 17q25.3 loss 1 - de novo CNVs; Pinto, 2010
AutCNV0000808 17 17q25.3 gain 1 - de novo CNVs; Pinto, 2010
AutCNV0000847 17 17q25.1 gain 1 - Pinto, 2010
AutCNV0000866 17 17p11.2 gain 1 - Pinto, 2010
AutCNV0000867 17 17q21.32 gain 1 - Pinto, 2010
AutCNV0000893 17 17q24.2 loss 1 - Pinto, 2010
AutCNV0000914 17 17q12 loss 1 - Pinto, 2010
AutCNV0000954 17 17p11.2 gain 1 - Pinto, 2010
AutCNV0001147 17 17p13.3 loss 1 - Pinto, 2010
AutCNV0001148 17 17p13.2 loss 1 - Pinto, 2010
AutCNV0001149 17 17q21.31 gain 1 - Pinto, 2010
AutCNV0001150 17 17q22 gain 1 - Pinto, 2010
AutCNV0001346 17 17p13.3 loss 1 - Pinto, 2010
AutCNV0001347 17 17p11.2 loss 1 - Pinto, 2010
AutCNV0001348 17 17p11.2 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