Copy Number Variants / 13q22.1

13q22.1

Case population data
Control population data
Type
Deletion
Average Length
72202
Range
73468831-73529446
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
6
Populations
12 (6 case / 6 control)
Individuals
10 (9 case / 1 control)
Summary

Summary statement in development

Reports related to 13q22.1 (6 Reports)
# Type Title Author, Year
1 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
2 Major An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... Kaminsky EB , et al. (2011)
3 Minor A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
4 Minor Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Lionel AC , et al. (2014)
5 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
6 Minor Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder. Mosca SJ , et al. (2016)
Show all Case Details Show all Cohort Details

13q22.1

Description:

Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)

Diagnosis:

All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.

Mosca SJ , et al. (2016)
Cohort Size: 82

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 28366

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina HumanOmni2.5-Quad BeadChip
Software: -
Algorithm: iPattern, PennCNV, QuantiSNP, CNVPartition
Geographical Ancestry: Canada

13q22.1

Description:

Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals

Diagnosis:

ASD (ADI-R and ADOS): strict, broad, or spectrum ASD

Pinto D , et al. (2010)
Cohort Size: 996

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 60616

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), and/or array SNP (Affy 500K)

Platform: Illumina Infinium 1M SNP microarray
Software: -
Algorithm: QuantiSNP & iPattern
Geographical Ancestry: European

13q22.1

Description:

Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children in Toronto, Ontario; McMaster University, Hamilton, Ontario; Memorial University of Newfoundland, St. John's, Newfoundland); the majority of these cases had been previously genotyped by SNP arrays with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were exclu

Diagnosis:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS

Prasad A , et al. (2013)
Cohort Size: 676

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 68324

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 1M
Software: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: Canada

13q22.1

Description:

Samples from the Autism Genome Project (AGP)

Diagnosis:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Engchuan W , et al. (2015)
Cohort Size: 1892

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 188432

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

13q22.1

Description:

Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome

Kaminsky EB , et al. (2011)
Cohort Size: 15749

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 148676

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis

Platform: Agilent 44K or 105K
Software: Feature Extraction & DNA Analytics
Algorithm: -
Geographical Ancestry: NA

13q22.1

Description:

Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders: 1619 cases from Alberta Children's Hospital; 14,847 cases from Brain and Body Genetic Resource Exchange (BBGRE) database; 7320 cases from Boston Children's Hospital; 3552 cases from Credit Valley Hospital; 7411 cases from the Hospital for Sick Children; 6626 c

Diagnosis:

64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)

Lionel AC , et al. (2014)
Cohort Size: 89985

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 85280

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, array SNP, and solid phase hybridization

Validation Method:

None

Platform: Multiple platforms (Agilent, Affymetrix, and/or Illumina)
Software: -
Algorithm: -
Geographical Ancestry: N/A
Show all Case Details Show all Cohort Details

prasad_12_ASD_discovery_cases-caseL384

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: -
CNV End: -
CNV Size: 11291
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

mosca_16_DCD_discovery_cases-case112903

Clinical Profile:

Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.

Cognitive Profile:

-

Mosca SJ , et al. (2016)
Primary Diagnosis: DCD (with or without ADHD and/or RD)

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 73447651
CNV End: 73476016
CNV Size: 28366
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

pinto_10_ASD_discovery_cases-case5129_3

Clinical Profile:

NA

Cognitive Profile:

NA

Pinto D , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 72894693
CNV End: 72955308
CNV Size: 60616
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

prasad_12_ASD_discovery_cases-case47389

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: -
CNV End: -
CNV Size: 68324
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: -
Gene Content: -

engchuan_15_ASD_discovery_cases-case3260_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73445237
CNV End: 73490173
CNV Size: 44936
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case3483_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 72820709
CNV End: 73009141
CNV Size: 188432
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-79P, PIBF1

engchuan_15_ASD_discovery_cases-case5129_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 72894693
CNV End: 72955308
CNV Size: 60615
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

lionel_13_ASD/ADHD/DD/ID_discovery_cases-case9

Clinical Profile:

Developmental delay, anxiety disorder, macrocephaly.

Cognitive Profile:

-

Lionel AC , et al. (2014)
Primary Diagnosis: Developmental delay and anxiety disorder

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 72860693
CNV End: 72945972
CNV Size: 85280
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-79P, PIBF1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000976

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 73764880
CNV End: 73913556
CNV Size: 148676
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
Show all Control Details Show all Cohort Details

13q22.1

Description:

PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.

Diagnosis:

Control

Prasad A , et al. (2013)
Cohort Size: 5139

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 68324

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

aCGH (PDx controls)

Validation Method:

-

Platform: Agilent 1M (PDx controls)
Software: PDx controls: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: PDx controls: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: NA

13q22.1

Description:

Matched siblings of autistic probands from the Simons Simplex Collection (SSC).

Diagnosis:

Controls

Sanders SJ , et al. (2011)
Cohort Size: 872

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 25484

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: Illumina 1M v1 or Illumina 1M v3
Software: -
Algorithm: PennCNV, QuantiSNP, & GNOSIS
Geographical Ancestry: -

13q22.1

Description:

Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)

Diagnosis:

Controls; subjects had no previous psychiatric history

Engchuan W , et al. (2015)
Cohort Size: 2342

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

13q22.1

Description:

Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Controls

Kaminsky EB , et al. (2011)
Cohort Size: 10118

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: NA

Deletion: NA
Duplication: NA

Total CNV: NA
Discovery Method:

aCGH

Validation Method:

-

Platform: Agilent 44K or 105K
Software: Feature Extraction & DNA Analytics
Algorithm: -
Geographical Ancestry: NA
Show all Control Details Show all Cohort Details

sanders_11_ASD_discovery_controls-11047.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 12.9

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 73450532
CNV End: 73476016
CNV Size: 25484
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
Submit New Gene

Report an Error