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:5 ( 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
AutCNV0002531 5 5p14.3 loss 1 - Pinto, 2010
AutCNV0002532 5 5p14.1 loss 1 - Pinto, 2010
AutCNV0002533 5 5p13.3 loss 1 - Pinto, 2010
AutCNV0002534 5 5p13.2 gain 1 - Pinto, 2010
AutCNV0002535 5 5p13.2 gain 1 - Pinto, 2010
AutCNV0002536 5 5p13.2 gain 1 - Pinto, 2010
AutCNV0002537 5 5p13.2 gain 1 - Pinto, 2010
AutCNV0002538 5 5q12.1 gain 1 - Pinto, 2010
AutCNV0002539 5 5q12.1 gain 1 - Pinto, 2010
AutCNV0002540 5 5q12.1 gain 1 - Pinto, 2010
AutCNV0002541 5 5q12.1 gain 1 - Pinto, 2010
AutCNV0002542 5 5q12.1 loss 1 - Pinto, 2010
AutCNV0002543 5 5q12.3 gain 1 - Pinto, 2010
AutCNV0002544 5 5q13.1 loss 1 - Pinto, 2010
AutCNV0002545 5 5q13.2 loss 1 - Pinto, 2010
AutCNV0002546 5 5q13.3 gain 1 - Pinto, 2010
AutCNV0002547 5 5q13.3 gain 1 - Pinto, 2010
AutCNV0002548 5 5q21.1 loss 1 - Pinto, 2010
AutCNV0002549 5 5q21.1 loss 1 - Pinto, 2010
AutCNV0002550 5 5q21.1 loss 1 - Pinto, 2010
AutCNV0002551 5 5q21.1 loss 1 - Pinto, 2010
AutCNV0002552 5 5q21.1 loss 1 - Pinto, 2010
AutCNV0002553 5 5q21.1 loss 1 - Pinto, 2010
AutCNV0002554 5 5q21.1 loss 1 - Pinto, 2010
AutCNV0002555 5 5q21.3 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