21q21.3-q22.11CNV Type: Duplication
Largest CNV size: 830038 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton duplication 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).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
830038
0
1
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
800000
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000182
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29850105
30680142
830038
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU08163
N/A
M
ASD
29800683
30620681
819999
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU08164
N/A
M
ASD
29800683
30620681
819999
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000182
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CLDN17,LINC00307,CLDN8,RPL8P2,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP23-1,KRTAP13-6P,KRTAP13-2,MIR4327,KRTAP13-1,KRTAP13-3,KRTAP13-4,KRTAP13-5P,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-9P,KRTAP19-10P,KRTAP19-11P,KRTAP19-6,KRTAP19-7,KRTAP22-2,KRTAP6-3,KRTAP6-2,KRTAP22-1,KRTAP6-1,KRTAP20-1,KRTAP20-4,KRTAP20-2,KRTAP20-3,GRIK1
leppa_16_ASD_discovery_cases-AU08163
Paternal
Multiplex
Segregated (CNV present in both affected siblings; not present in unaffected siblings)
CLDN17,LINC00307,CLDN8,RPL8P2,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP23-1,KRTAP13-6P,KRTAP13-2,MIR4327,KRTAP13-1,KRTAP13-3,KRTAP13-4,KRTAP13-5P,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-9P,KRTAP19-10P,KRTAP19-11P,KRTAP19-6,KRTAP19-7,KRTAP22-2,KRTAP6-3,KRTAP6-2,KRTAP22-1,KRTAP6-1,KRTAP20-1,KRTAP20-4,GRIK1
leppa_16_ASD_discovery_cases-AU08164
Paternal
Multiplex
Segregated (CNV present in both affected siblings; not present in unaffected siblings)
CLDN17,LINC00307,CLDN8,RPL8P2,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP23-1,KRTAP13-6P,KRTAP13-2,MIR4327,KRTAP13-1,KRTAP13-3,KRTAP13-4,KRTAP13-5P,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-9P,KRTAP19-10P,KRTAP19-11P,KRTAP19-6,KRTAP19-7,KRTAP22-2,KRTAP6-3,KRTAP6-2,KRTAP22-1,KRTAP6-1,KRTAP20-1,KRTAP20-4,GRIK1
Controls
No Control Data Available
No Animal Model Data Available