AutismKB 2.0

Detail Information of AutCNV0005156

1. Sample AND Method Top
Users can click the chromosome coordinates of "Region" label to view information in UCSC Genome Browser.
1. Sample AND Method Top
Users can click the chromosome coordinates of "Region" label to view information in UCSC Genome Browser.
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
EuropeanASD - - - - 2446 4768 1681 Richard AC, 2016
Population: -
Platform: Illumina 1M single or duo microarrays;Agilent 1M CGH array
Method: -
Marker:-
Band:22q11
Evidences:Overlapping/Recurrent CNVs;
Region: Chr22: - (Deduced by Band)
Gain/Loss:
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
EuropeanASD - - - - 676 1005 1681 Richard AC, 2016
Population: -
Platform: Illumina 1M single or duo microarrays;Agilent 1M CGH array
Method: -
Marker:-
Band:22q11
Evidences:Overlapping/Recurrent CNVs;
Region: Chr22: - (Deduced by Band)
Gain/Loss:
2. Related Syndromic Genes Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
Gene ID Gene Symbol Inheritance Evidence Level
No data!
3. Related Non-syndromic Genes Top
Gene ID Gene Symbol Evidence Score Total Score
Low-Scale Association GWAS Low-Scale Single Gene Expression CNV Linkage
AutG7204 TRIO 0 0 1 0 1 0 22

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