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Xp21.3-p21.1CNV Type: Deletion


Largest CNV size: 4594899 bp

Statistics Box:
Number of Reports: 1



Summary Information

A de novo Xp21.3-p21.1 deletion was identified in an ASD proband from the Autism Simplex Collection (Yuen et al., 2017).

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type

No Minor Reports

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 4594899
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)

Controls

No Control Data Available

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  yuen_17_ASD_discovery_cases-case1-0487-003
 N/A
 N/A
 ASD
 Case cohort: The Autism Simplex Collection . Clinical description: N/A
 
 27170484
 31765383
  4594900
 GRCh38
 Deletion
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 yuen_17_ASD_discovery_cases-case1-0487-003
 Affymetrix 6.0
 
 De novo
 Simplex
 Segregated
 PTP4A1P5,PPP4R3C,DCAF8L1,MIR6134,RNA5SP500,MIR4666B,PIGFP3,MAGEB2,MAGEB3,MAGEB4,PLCE1P1,NR0B1,CKS1BP6,FTLP2,GK-IT1,TAB3-AS2,FTHL17,RNU6-894P,MAGEB10,MAGEB1,CXorf21,GK-AS1,TAB3-AS1,DCAF8L2,GK,TAB3,IL1RAPL1,DMD
 

Controls

No Control Data Available
No Animal Model Data Available
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