8q21.2-q21.3CNV Type: Duplication
Largest CNV size: 796758 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
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
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
7951000
1
0
1
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
796758
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
3436000
1
0
1
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
2950000
1
0
1
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
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
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
qPCR
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
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
girirajan_13a_ASD_discovery_cases-13451.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
84155210
92098596
7943387
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000970
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
85554861
86369755
814895
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU1069301
N/A
N/A
ASD
83913821
87343651
3429831
GRCh38
Deletion
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530517
M
Intellectual disability
Intellectual disability (HP:0001249).
83510501
86460500
2950000
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
wang_10_ASD_discovery_controls-Aut114
29
F
Control
NA
NA
84850368
86779413
1929046
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13a_ASD_discovery_cases-13451.p1
Unknown
Simplex
Unknown
TPM3P3,RNU6-1040P,ACTBP6,C8orf59,REXO1L8P,REXO1L1P,REXO1L12P,REXO1L11P,REXO1L10P,REXO1L9P,REXO1L2P,REXO1L5P,REXO1L6P,NTAN1P2,SLC2A3P4,MIOXP1,GOLGA2P1,UBE2Q2P10,VTA1P2,IARS2P1,SOX5P1,DCAF4L2,RNA5SP272,KRT8P4,COX6B1P6,RNU6-925P,RNA5SP273,MIR4661,RN7SKP231,PRR13P7,MRPS16P1,LRRCC1,CA13,CA3,CA2,REXO1L3P,REXO1L4P,PSKH2,CPNE3,RPSAP74,NBN,CALB1,LINC01030,PIP4P2,OTUD6B-AS1,OTUD6B,LRRC69,RALYL,E2F5,CA1,CA3-AS1,ATP6V0D2,SLC7A13,WWP1,RMDN1,CNGB3,RIPK2,OSGIN2,DECR1,LINC00534,TMEM64,NECAB1,C8orf88,RUNX1T1,CNBD1,MMP16,SLC26A7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000970
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
REXO1L8P,REXO1L1P,REXO1L12P,REXO1L11P,REXO1L10P,REXO1L9P,REXO1L2P,REXO1L5P,REXO1L6P,REXO1L3P,REXO1L4P,PSKH2,ATP6V0D2,SLC7A13,WWP1
leppa_16_ASD_discovery_cases-AU1069301
qPCR
De novo
Unknown
Possibly segregated
TPM3P3,RNU6-1040P,ACTBP6,C8orf59,REXO1L8P,REXO1L1P,REXO1L12P,REXO1L11P,REXO1L10P,REXO1L9P,REXO1L2P,REXO1L5P,REXO1L6P,NTAN1P2,SLC2A3P4,MIOXP1,GOLGA2P1,UBE2Q2P10,LRRCC1,CA13,CA3,CA2,REXO1L3P,REXO1L4P,PSKH2,CPNE3,RALYL,E2F5,CA1,CA3-AS1,ATP6V0D2,SLC7A13,WWP1,RMDN1,CNGB3,CNBD1
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530517
Unknown
CA3,CA2,CA1,ACTBP6,E2F5,LRRCC1,PSKH2,RALYL,SLC7A13,JCHAINP1,REXO1L1P,ATP6V0D2,CA13,REXO1L8P,REXO1L6P,RBIS,REXO1L3P,REXO1L4P,RPL32P4,REXO1L12P,REXO1L11P,REXO1L2P,REXO1L10P,REXO1L9P,PSMC2P2,CA3-AS1,E2F5-DT,WWP1-AS1,LINC02849,TPM3P3,RNU6-1040P,REXO1L5P,WWP1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
wang_10_ASD_discovery_controls-Aut114
Unknown
NA
NA
ACTBP6,C8orf59,REXO1L8P,REXO1L1P,REXO1L12P,REXO1L11P,REXO1L10P,REXO1L9P,REXO1L2P,REXO1L5P,REXO1L6P,NTAN1P2,SLC2A3P4,MIOXP1,GOLGA2P1,UBE2Q2P10,LRRCC1,CA13,CA3,CA2,REXO1L3P,REXO1L4P,PSKH2,CPNE3,RALYL,E2F5,CA1,CA3-AS1,ATP6V0D2,SLC7A13,WWP1,RMDN1,CNGB3
No Animal Model Data Available