Copy Number Variants / 13q11-q12.11

13q11-q12.11

Type
Duplication
Average Length
323634
Range
19062300-19594994
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
2
Populations
2 (2 case / 0 control)
Individuals
2 (2 case / 0 control)
Summary

Summary statement in development

Reports related to 13q11-q12.11 (2 Reports)
# Type Title Author, Year
1 Major Structural variation of chromosomes in autism spectrum disorder. Marshall CR , et al. (2008)
2 Minor Rare structural variation of synapse and neurotransmission genes in autism. Gai X , et al. (2011)
Show all Case Details Show all Cohort Details

13q11-q12.11

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: 114575

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

13q11-q12.11

Description:

Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites

Diagnosis:

ASD

Marshall CR , et al. (2008)
Cohort Size: 427

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 532694

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP, karotyping

Validation Method:

qPCR, qmPCR

Platform: Affy 500K
Software: -
Algorithm: dChip, CNAG, & GEMCA
Geographical Ancestry: 90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
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gai_11_ASD_replication_cases-AU045514

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: 114575
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: -
Gene Content: -

marshall_08_ASD_discovery_cases-SK0079-003

Clinical Profile:

NA

Cognitive Profile:

NA

Marshall CR , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 18488160
CNV End: 19020854
CNV Size: 532694
Validation Description: qPCR, qmPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: BNIP3P7, LONRF2P2, LINC00388, FEM1AP4, LINC00387, TERF1P5, FAM207BP, GXYLT1P1, ZNF965P, CYP4F34P, SNX18P26, LINC00328-2P, RHOT1P3, RNU6-55P, RNU6-76P, SNX19P2, LINC00442, USP24P1, LINC00349, CNN2P12, ANKRD20A9P, LINC00408, PHF2P2
Show all Control Details Show all Cohort Details

13q11-q12.11

Description:

German PopGen project and entries from Database of Genomic Variants

Diagnosis:

Controls

Marshall CR , et al. (2008)
Cohort Size: 500

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Array SNP, karotyping

Validation Method:

-

Platform: Affy 500K
Software: -
Algorithm: dChip, CNAG, & GEMCA
Geographical Ancestry: European

13q11-q12.11

Description:

Non-disease controls from Ontario population

Diagnosis:

Controls

Marshall CR , et al. (2008)
Cohort Size: 1152

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Array SNP, karotyping

Validation Method:

-

Platform: Affy 500K
Software: -
Algorithm: dChip, CNAG, & GEMCA
Geographical Ancestry: European
Show all Control Details Show all Cohort Details

No control individuals reported.

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