Copy Number Variants / 13q14.3

13q14.3

Case population data
Control population data
Type
Deletion-Duplication
Average Length
159432
Range
50123856-50190113
Associated Human Genes
INTS6, PCDH8
Associated Animal Models
-
Autism Reports
10
Populations
16 (10 case / 6 control)
Individuals
31 (23 case / 8 control)
Summary

Summary statement in development

Reports related to 13q14.3 (10 Reports)
# Type Title Author, Year
1 Minor Rare structural variation of synapse and neurotransmission genes in autism. Gai X , et al. (2011)
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 Minor Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Levy D , et al. (2011)
4 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)
5 Minor Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Celestino-Soper PB , et al. (2011)
6 Major Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. O'Roak BJ , et al. (2012)
7 Minor Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies. Iourov IY , et al. (2013)
8 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
9 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
10 Minor Copy number variation analysis of patients with intellectual disability from North-West Spain. Quintela I , et al. (2017)
Show all Case Details Show all Cohort Details

13q14.3

Description:

Autistic probands from 887 families from the Simons Simplex Collection (SSC)

Diagnosis:

ASD

Levy D , et al. (2011)
Cohort Size: 858

Age Min: -
Age Max: -
Average: -

Male: 33
Female: 67
Unknown: -
CNV Size: 66258

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

-

Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -

13q14.3

Description:

Replication case samples derived from AGRE sets 1-3

Diagnosis:

Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes

Gai X , et al. (2011)
Cohort Size: 593

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 183340

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3.0
Algorithm: -
Geographical Ancestry: European

13q14.3

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: 256748

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A

13q14.3

Description:

Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families

Diagnosis:

ASD/autism

O'Roak BJ , et al. (2012)
Cohort Size: 122

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 60583

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Exome capture

Validation Method:

aCGH, Sanger sequencing

Platform: Capture with NimbleGen EZ Exome V2.0, sequencing with Illumina GAIIx or HiSeq2000
Software: mrsFAST aligner
Algorithm: HMM
Geographical Ancestry: NA

13q14.3

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: 71
Female: 29
Unknown: -
CNV Size: 60583

Deletion: 7
Duplication: 5

Total CNV: 12
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: Illumina 1M v1 (n=334) or Illumina 1M v3 (n=840)
Software: -
Algorithm: PennCNV, QuantiSNP, & GNOSIS
Geographical Ancestry: White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&

13q14.3

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: 124790

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

13q14.3

Description:

Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study

Diagnosis:

All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]

Quintela I , et al. (2017)
Cohort Size: 573

Age Min: 48
Age Max: 48
Average: 48

Male: 100
Female: -
Unknown: -
CNV Size: 674390

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix Cytogenetics Whole-Genome 2.M SNP array (n=126) and Affymetrix CytoScan High-Density SNP array (n=447)
Software: Chromosome Analysis Suite (ChAS), version 1.2.2 (Affymetrix)
Algorithm: -
Geographical Ancestry: North West Spain

13q14.3

Description:

Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012

Diagnosis:

Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies

Iourov IY , et al. (2013)
Cohort Size: 54

Age Min: 36
Age Max: 36
Average: 36

Male: -
Female: 100
Unknown: -
CNV Size: 164989

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: BACs aCGH
Software: -
Algorithm: -
Geographical Ancestry: Russian

13q14.3

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: 540950

Deletion: 0
Duplication: 1

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

13q14.3

Description:

ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.

Diagnosis:

ASD

Celestino-Soper PB , et al. (2011)
Cohort Size: 99

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 322

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 1M
Software: Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Algorithm: ADM-2
Geographical Ancestry: -
Show all Case Details Show all Cohort Details

levy_11_ASD_discovery_cases-11083.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 49549720
CNV End: 49615977
CNV Size: 66258
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

levy_11_ASD_discovery_cases-11472.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 52338960
CNV End: 52379254
CNV Size: 40295
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LINC02333, THSD1

gai_11_ASD_replication_cases-AU025703

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: -
CNV End: -
CNV Size: 183340
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: -
Gene Content: -

sanders_11_ASD_discovery_cases-11083.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 122

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

Age: 8.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 49550485
CNV End: 49611068
CNV Size: 60583
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11276.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59

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

Age: 7.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband unmatched)
CNV Start: 49799448
CNV End: 49799662
CNV Size: 214
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11446.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63

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

Age: 8.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 49799448
CNV End: 49799662
CNV Size: 214
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11573.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 68; non-verbal IQ, 85; verbal IQ, 51

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

Age: 8.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 49799448
CNV End: 49799662
CNV Size: 214
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11592.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122

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

Age: 10.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 49799448
CNV End: 49799662
CNV Size: 214
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11625.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14

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

Age: 11.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 49799448
CNV End: 49799662
CNV Size: 214
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11780.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 117; non-verbal IQ, 112; verbal IQ, 120

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

Age: 4.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 49799448
CNV End: 49799662
CNV Size: 214
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12071.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 108; non-verbal IQ, 102; verbal IQ, 112

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

Age: 11.7

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 52593378
CNV End: 52602054
CNV Size: 8676
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12121.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 130; non-verbal IQ, 134; verbal IQ, 110

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

Age: 8.5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 49799448
CNV End: 49799662
CNV Size: 214
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12430.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 106

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

Age: 9.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 49799448
CNV End: 49799662
CNV Size: 214
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12617.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 109; non-verbal IQ, 112; verbal IQ, 106

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

Age: 10.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 49799448
CNV End: 49799662
CNV Size: 214
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12742.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106

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

Age: 4.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 49799448
CNV End: 49799662
CNV Size: 214
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case13317.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: 50713216
CNV End: 50969964
CNV Size: 256748
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNA5SP28, DLEU7-AS1, RNASEH2B-AS1, RNASEH2B, DLEU7, DLEU1

engchuan_15_ASD_discovery_cases-case3128_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: 49550485
CNV End: 49611068
CNV Size: 60583
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

iourov_12_ASD/ID/EP_discovery_cases-case39

Clinical Profile:

Hydrocephaly, seizures, facial dysmorphisms. Karyotype: 16qh-, 16qh-.

Cognitive Profile:

Developmental delay/intellectual disability

Iourov IY , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 3 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 48329787
CNV End: 48494776
CNV Size: 164989
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LPAR6, RB1, RCBTB2

o'roak_12_ASD_discovery_cases-case11083.p1

Clinical Profile:

Case also identified with de novo mutation. No additional clinical info available.

Cognitive Profile:

High IQ. Non verbal IQ, 119

O'Roak BJ , et al. (2012)
Primary Diagnosis: ASD/Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 49550485
CNV End: 49611068
CNV Size: 60583
Validation Description: aCGH, Sanger sequencing
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

celestino-soper_11_ASD_discovery_cases-11455

Clinical Profile:

NA

Cognitive Profile:

NA

Celestino-Soper PB , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 51584475
CNV End: 51584797
CNV Size: 322
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

quintela_17_DD/ID_discovery_cases-caseID_163

Clinical Profile:

Epilepsy, microcephaly, dysmorphic facial features

Cognitive Profile:

Intellectual disability

Quintela I , et al. (2017)
Primary Diagnosis: Intellectual disability and epilepsy

Age: 4 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 53903123
CNV End: 54577512
CNV Size: 674390
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1297, RPL13AP25, LINC00458

engchuan_15_ASD_discovery_cases-case14135_2330

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: 51574574
CNV End: 51699364
CNV Size: 124790
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY1P6, RN7SL413P, ATP5F1P1, WDFY2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002374

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: 51717666
CNV End: 52258617
CNV Size: 540950
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCDC70, CTAGE3P, FABP5P2, UTP14C, ATP7B, ALG11, NEK3, MRPS31P5, WDFY2, DHRS12, NEK5, TPTE2P2
Show all Control Details Show all Cohort Details

13q14.3

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: 33
Female: 67
Unknown: -
CNV Size: 66258

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

-

Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -

13q14.3

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: 90556

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A

13q14.3

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: 71
Female: 29
Unknown: -
CNV Size: 69800

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

-

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

13q14.3

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: 1017325

Deletion: 1
Duplication: 2

Total CNV: 3
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

13q14.3

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: 774833

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WES

Validation Method:

None

Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European

13q14.3

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

levy_11_ASD_discovery_controls-11083.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: 49549720
CNV End: 49615977
CNV Size: 66258
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11083.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: 49541268
CNV End: 49611068
CNV Size: 69800
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_controls-11298.s1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: 13.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 49550485
CNV End: 49611068
CNV Size: 60583
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_controls-control13589.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

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

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 51584687
CNV End: 51675243
CNV Size: 90556
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY1P6, RN7SL413P, ATP5F1P1, WDFY2

poultney_13_ASD_discovery_controls-control04C31069A

Clinical Profile:

NIMH Control (NIMH ID 68756)

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 51964870
CNV End: 52739703
CNV Size: 774833
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FABP5P2, UTP14C, LINC02333, RNY4P24, LINC00345, ATP7B, ALG11, NEK3, MRPS31P5, THSD1, CKAP2, MRPS31P4, HNRNPA1L2, CNMD, NEK5, TPTE2P2, TPTE2P3, SUGT1, VPS36

engchuan_15_ASD_discovery_controls-controlB983717_1007842477

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: 52160723
CNV End: 52609727
CNV Size: 449004
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC02333, RNY4P24, LINC00345, MRPS31P5, THSD1, CKAP2, MRPS31P4, TPTE2P2, TPTE2P3, VPS36

engchuan_15_ASD_discovery_controls-controlHABC_900208_900208

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: 52545569
CNV End: 52714959
CNV Size: 169390
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MRPS31P4, HNRNPA1L2, CNMD, TPTE2P3, SUGT1

engchuan_15_ASD_discovery_controls-controlHABC_900457_900457

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: 49944592
CNV End: 50961917
CNV Size: 1017325
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3613, MIR16-1, MIR15A, RPL18P10, ST13P4, RPL34P26, DLEU1-AS1, RNA5SP28, TRIM13, KCNRG, DLEU7-AS1, RNASEH2B-AS1, RNASEH2B, DLEU2, DLEU7, DLEU1
Genes associated with 13q14.3(0 Models)
INTS6 3  /  4 Rare Single Gene Mutation
Score
2
PCDH8 1  /  1 Rare Single Gene Mutation
Score
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