Copy Number Variants / 13q33.1

13q33.1

Case population data
Control population data
Type
Deletion-Duplication
Average Length
171102
Range
102227481-102487470
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
8
Populations
14 (8 case / 6 control)
Individuals
42 (27 case / 15 control)
Summary

Summary statement in development

Reports related to 13q33.1 (8 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 Minor Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ , et al. (2011)
3 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)
4 Minor Rare deletions at the neurexin 3 locus in autism spectrum disorder. Vaags AK , et al. (2012)
5 Major Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Griswold AJ , et al. (2012)
6 Minor A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
7 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
8 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
Show all Case Details Show all Cohort Details

13q33.1

Description:

Probands from the Simons Simplex Collection

Diagnosis:

Diagnosis of ASD

Krumm N , et al. (2015)
Cohort Size: 2377

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 3316

Deletion: 0
Duplication: 3

Total CNV: 3
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1

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: 100
Female: -
Unknown: -
CNV Size: 259990

Deletion: 1
Duplication: 2

Total CNV: 3
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1

Description:

Discovery cohort of Canadian individuals with ASD

Diagnosis:

ASD

Vaags AK , et al. (2012)
Cohort Size: 1158

Age Min: 199
Age Max: 199
Average: 199

Male: 100
Female: -
Unknown: -
CNV Size: 10860

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1

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: 100
Female: -
Unknown: -
CNV Size: 244048

Deletion: 1
Duplication: 1

Total CNV: 2
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1

Description:

Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.

Diagnosis:

ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 ± 1.5 (mean verbal IQ, 81.9 ± 1.7; mean non-verbal IQ, 88.4 ± 1.4)

Sanders SJ , et al. (2011)
Cohort Size: 1124

Age Min: -
Age Max: -
Average: -

Male: 63
Female: 38
Unknown: -
CNV Size: 16017

Deletion: 6
Duplication: 3

Total CNV: 9
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1

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: 956066

Deletion: 2
Duplication: 3

Total CNV: 5
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1

Description:

Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.

Diagnosis:

Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.

Griswold AJ , et al. (2012)
Cohort Size: 813

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1429367

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1

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: 1116289

Deletion: 1
Duplication: 2

Total CNV: 3
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Case Details Show all Cohort Details

pinto_10_ASD_discovery_cases-case5115_3

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 102589961
CNV End: 102665105
CNV Size: 75145
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: -
Gene Content: -

pinto_10_ASD_discovery_cases-case5115_3

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 102227481
CNV End: 102487470
CNV Size: 259990
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: -
Gene Content: BIVM, KDELC1, SLC10A2, ERCC5, C13orf27

pinto_10_ASD_discovery_cases-case5419_3

Clinical Profile:

No epilepsy; long, wide palpebral fissures, wide mouth, protruding ears, no other dysmorphic features

Cognitive Profile:

Unknown

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 101522771
CNV End: 101598235
CNV Size: 75465
Validation Description: Agilent1M-Paternal
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: Simplex
Genome Build: -
Gene Content: -

sanders_11_ASD_discovery_cases-11063.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 101; non-verbal IQ, 101; verbal IQ, 103

Sanders SJ , et al. (2011)
Primary Diagnosis: Aspergers

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 102487470
CNV End: 102497214
CNV Size: 9744
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11080.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 5

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 102732075
CNV End: 102735921
CNV Size: 3846
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11707.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 19; non-verbal IQ, 23; verbal IQ, 16

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 102487470
CNV End: 102496631
CNV Size: 9161
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11969.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 101915197
CNV End: 101921393
CNV Size: 6196
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-11989.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 102483067
CNV End: 102497214
CNV Size: 14147
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12033.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 103075180
CNV End: 103076281
CNV Size: 1101
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12395.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 81

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 101967357
CNV End: 101982789
CNV Size: 15432
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12961.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 103114292
CNV End: 103130309
CNV Size: 16017
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13337.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 101915197
CNV End: 101921393
CNV Size: 6196
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: hg18
Gene Content: -

griswold_12_ASD_discovery_cases-case3524

Clinical Profile:

NA

Cognitive Profile:

NA

Griswold AJ , et al. (2012)
Primary Diagnosis: ASD/autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 103545187
CNV End: 104974554
CNV Size: 1429367
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: hg18
Gene Content: -

prasad_12_ASD_discovery_cases-case96280L

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: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 101524562
CNV End: 101598773
CNV Size: 74212
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

krumm_15_ASD_discovery_cases-case11989.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 103698482
CNV End: 103701796
CNV Size: 3314
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SLC10A2, Exon (6/6), Intron (5/5), Exon (5/6)

krumm_15_ASD_discovery_cases-case13058.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 103698482
CNV End: 103701798
CNV Size: 3316
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SLC10A2, Exon (6/6), Intron (5/5), Exon (5/6)

krumm_15_ASD_discovery_cases-case13888.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 103698482
CNV End: 103701798
CNV Size: 3316
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SLC10A2, Exon (6/6), Intron (5/5), Exon (5/6)

engchuan_15_ASD_discovery_cases-case4193_1

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: 101982640
CNV End: 102938706
CNV Size: 956066
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case5115_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: 102589961
CNV End: 102665105
CNV Size: 75144
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case5115_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: 102227481
CNV End: 102487470
CNV Size: 259989
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case5419_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: 101522771
CNV End: 101598235
CNV Size: 75464
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

prasad_12_ASD_discovery_cases-caseMM0234-5

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: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 102224958
CNV End: 102469005
CNV Size: 244048
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: KDELC1, BIVM, ERCC5, LOC121952, BIVM-ERCC5

vaags_11_ASD_discovery_cases-probandF1-003

Clinical Profile:

Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).

Cognitive Profile:

Leiter-R IQ: 119 (92nd %ile)

Vaags AK , et al. (2012)
Primary Diagnosis: Asperger syndrome

Age: 16 yrs. 7 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 102690014
CNV End: 102700873
CNV Size: 10860
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_cases-case14145_2430

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: 103312824
CNV End: 103416945
CNV Size: 104121
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002069

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: 101966982
CNV End: 102312359
CNV Size: 345377
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: TPP2, METTL21C, CCDC168, TEX30, KDELC1, BIVM, BIVM-ERCC5, ERCC5

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002508

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: 102272432
CNV End: 103388721
CNV Size: 1116289
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: BIVM, BIVM-ERCC5, ERCC5, SLC10A2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002720

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: 100838094
CNV End: 101086542
CNV Size: 248448
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: NALCN, ITGBL1
Show all Control Details Show all Cohort Details

13q33.1

Description:

Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)

Diagnosis:

Control

Levy D , et al. (2011)
Cohort Size: 863

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 43196

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1

Description:

Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases

Diagnosis:

Controls (no history of psychiatric symptoms by self-report)

Nord AS , et al. (2011)
Cohort Size: 123

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 15331

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1

Description:

Unaffected siblings from quad families from the Simons Simplex Collection

Diagnosis:

Control

Krumm N , et al. (2015)
Cohort Size: 1786

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 0

Total CNV: 0
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1

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: 100
Female: -
Unknown: -
CNV Size: 244048

Deletion: 0
Duplication: 0

Total CNV: 0
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1

Description:

Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control

Diagnosis:

Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV

Kanduri C , et al. (2015)
Cohort Size: 269

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 462854

Deletion: 2
Duplication: 0

Total CNV: 2
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1

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: 63
Female: 38
Unknown: -
CNV Size: 38025

Deletion: 6
Duplication: 1

Total CNV: 7
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1

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: 622262

Deletion: 1
Duplication: 2

Total CNV: 3
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1

Description:

Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)

Diagnosis:

Control

Griswold AJ , et al. (2012)
Cohort Size: 592

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1429367

Deletion: 0
Duplication: 0

Total CNV: 0
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1

Description:

Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)

Diagnosis:

Control

Poultney CS , et al. (2013)
Cohort Size: 260

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 78107

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q33.1

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
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Control Details Show all Cohort Details

levy_11_ASD_discovery_controls-11472.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Levy D , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 101034390
CNV End: 101077585
CNV Size: 43196
Validation Description: aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: hg18
Gene Content: -

nord_11_ASD_discovery_controls-04C27862

Clinical Profile:

-

Cognitive Profile:

-

Nord AS , et al. (2011)
Primary Diagnosis: Control

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 102824568
CNV End: 102839898
CNV Size: 15331
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: -
Gene Content: -

sanders_11_ASD_discovery_controls-11472.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 10

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 101036745
CNV End: 101074770
CNV Size: 38025
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11484.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 101915197
CNV End: 101923583
CNV Size: 8386
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11969.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 17

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 101915197
CNV End: 101921393
CNV Size: 6196
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-11989.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 102483067
CNV End: 102497214
CNV Size: 14147
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12083.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 5

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 103114292
CNV End: 103130309
CNV Size: 16017
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12372.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 13

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 103114292
CNV End: 103134928
CNV Size: 20636
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12657.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 10

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 103114292
CNV End: 103130309
CNV Size: 16017
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

kanduri_15_ASD_discovery_controls-control_split860

Clinical Profile:

Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV

Cognitive Profile:

-

Kanduri C , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 103400083
CNV End: 103862936
CNV Size: 462854
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: N/A
Gene Content: BIVM, BIVM-ERCC5, CCDC168, ERCC5, KDELC1, SLC10A2, TEX30

kanduri_15_ASD_discovery_controls-control_split1883

Clinical Profile:

Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV

Cognitive Profile:

-

Kanduri C , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 103347428
CNV End: 103354056
CNV Size: 6629
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: N/A
Gene Content: -

poultney_13_ASD_discovery_controls-control04C29638A

Clinical Profile:

NIMH Control (NIMH ID 45390)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 103268744
CNV End: 103346850
CNV Size: 78107
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg19
Gene Content: TPP2, METTL21C

engchuan_15_ASD_discovery_controls-control110036014751_

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 103054061
CNV End: 103381476
CNV Size: 327415
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB566863_1007875835

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 102725899
CNV End: 103348161
CNV Size: 622262
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlB823925_0067942577

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 101210075
CNV End: 101279382
CNV Size: 69307
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -
Submit New Gene

Report an Error