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: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
AutCNV0000478 3 3p21.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000480 3 3q13.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000481 3 3q13.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000482 3 3q29 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000483 4 4p16.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000484 4 4q35.2 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000485 5 5q31.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000486 5 5q35.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000487 6 6p25.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000488 6 6p21.32-21.33 Gain 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000489 6 6p21.32-21.33 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000490 6 6p21.32-21.33 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000491 6 6p21.32 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000492 6 6p21.2-21.31 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000493 6 6p21.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000494 6 6q14.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000495 6 6q14.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000496 6 6q14.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000497 6 6q14.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000498 6 6q14.3 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000499 6 6q22.31 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000500 6 6q25.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000501 6 6q25.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000502 7 7p22.2-22.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000503 7 7p22.1-22.2 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