Copy Number Variants / 13q13.3-q14.11

13q13.3-q14.11

Case population data
Control population data
Type
Deletion
Average Length
3250523
Range
35806613-41950091
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
1
Populations
7 (1 case / 6 control)
Individuals
2 (1 case / 1 control)
Summary

Rare singleton deletion within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).

Reports related to 13q13.3-q14.11 (1 Reports)
# Type Title Author, Year
1 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)
Show all Case Details Show all Cohort Details

13q13.3-q14.11

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: 6143478

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
Show all Case Details Show all Cohort Details

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001625

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: 35232476
CNV End: 41375955
CNV Size: 6143478
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: PHBP13, MAB21L1, LINC00445, RNU6-71P, HIST1H2APS6, GAPDHP34, TCEAL4P1, ARL2BPP3, NDE1P2, RFXAP, SMAD9-IT1, LAMTOR3P1, RPL29P28, EIF4A1P5, EXOSC8, CSNK1A1L, RN7SKP1, RPS12P24, LINC01048, RNA5SP26, LINC00366, PRDX3P3, RNU6-56P, FREM2-AS1, PLA2G12AP2, NXT1P1, MIR4305, RNY4P14, CDKN2AIPNLP3, AZU1P1, LINC00332, RPL17P51, RNY3P9, RN7SKP2, RLIMP1, MIR320D1, MIR621, CYCSP34, RGS17P1, MIR3168, RN7SL597P, KBTBD6, CALM2P3, KBTBD7, MORF4L1P4, RAC1P3, RNU6-57P, CCDC169, SERTM1, SMAD9, SUPT20H, LINC00547, POSTN, HSPD1P9, UFM1, STOML3, PROSER1, NHLRC3, SLC25A15, WBP4, MTRF1, NAA16, DCLK1, SOHLH2, CCDC169-SOHLH2, SPART, CCNA1, ALG5, LINC02334, LINC00571, LINC00437, ANKRD26P2, LHFPL6, COG6, LINC00598, FOXO1, MRPS31, ELF1, NBEA, TRPC4, FREM2, TPTE2P5, SUGT1P3
Show all Control Details Show all Cohort Details

13q13.3-q14.11

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: 357568

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

13q13.3-q14.11

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

engchuan_15_ASD_discovery_controls-control110036023372_

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: 39938306
CNV End: 40295874
CNV Size: 357568
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC00332, RPL17P51, RNY3P9, LINC00598
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