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
AutCNV0000427 15 15q13.1-13.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000428 15 15q13.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000429 15 15q13.2 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000430 16 16p12.3-13.11 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000431 16 16p12.3-13.11 Loss 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000432 16 16p12.3-13.11 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000434 18 18p11.32 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000435 22 22q11.22 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000436 22 22q11.22 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000437 22 22q11.22 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000438 22 22q11.22 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000439 22 22q11.22 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000440 22 22q13.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000441 1 1p36.32-36.33 Loss 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000442 1 1p36.32-36.33 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000443 1 1p36.32-36.33 Loss 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000444 1 1p36.31 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000445 1 1p36.31 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000446 1 1p31.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000447 1 1p21.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000448 1 1p21.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000449 1 1p21.1 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000450 1 1p21.1 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000451 1 1p21.1 Loss 3 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000452 1 1p21.1 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