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:All ( 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
AutCNV0000627 17 17q12 Loss 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000628 17 17q12 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000629 17 17q12 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000630 17 17q21.31 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000631 17 17q21.31 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000632 17 17q21.31-21.32 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000633 17 17q21.31-21.32 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000634 17 17q21.31-21.32 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000635 17 17q21.31-21.32 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000636 17 17q21.31-21.32 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000637 17 17q21.31-21.32 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000638 17 17q21.31-21.32 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
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
AutCNV0000644 18 18q21.32 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000645 19 19p13.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000646 19 19q12 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000647 19 19q13.12 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000648 19 19q13.33 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000649 19 19q13.42 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000650 20 20p12.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000651 20 20p12.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009

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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