Copy Number Variants / 13q13.1-q13.2

13q13.1-q13.2

Case population data
Control population data
Type
Duplication
Average Length
1165104
Range
33306237-34405491
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
1
Populations
7 (1 case / 6 control)
Individuals
2 (1 case / 1 control)
Summary

A maternally-inherited duplication within this region was identified in a male ASD proband from SSC quad family 13590; this duplication was also observed in the proband's unaffected sibling (Krumm et al., 2013).

Reports related to 13q13.1-q13.2 (1 Reports)
# Type Title Author, Year
1 Minor Transmission disequilibrium of small CNVs in simplex autism. Krumm N , et al. (2013)
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13q13.1-q13.2

Description:

Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)

Diagnosis:

Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits

Krumm N , et al. (2013)
Cohort Size: 411

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1099254

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WES

Validation Method:

None

Platform: Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
Software: CoNIFER
Algorithm: DNACopy, CGHCall
Geographical Ancestry: N/A
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krumm_13_ASD_discovery_cases-case13590.p1

Clinical Profile:

ASD proband from SSC quad family 13590. SRS score of 90.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 86.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32732100
CNV End: 33831354
CNV Size: 1099254
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNY1P4, TOMM22P3, LINC02344, RNU5A-4P, STARD13-AS, PDS5B, LINC00423, KL, STARD13, STARD13-IT1, RFC3
Show all Control Details Show all Cohort Details

13q13.1-q13.2

Description:

Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)

Diagnosis:

Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits

Krumm N , et al. (2013)
Cohort Size: 411

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1230954

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WES

Validation Method:

None

Platform: Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
Software: CoNIFER
Algorithm: DNACopy, CGHCall
Geographical Ancestry: N/A
Show all Control Details Show all Cohort Details

krumm_13_ASD_discovery_controls-control13590.s1

Clinical Profile:

Unaffected sibling from SSC quad family 13590. SRS score of 36.

Cognitive Profile:

-

Krumm N , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32735171
CNV End: 33966125
CNV Size: 1230954
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNY1P4, TOMM22P3, LINC02344, RNU5A-4P, STARD13-AS, PDS5B, LINC00423, KL, STARD13, STARD13-IT1, RFC3
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