4q21.23CNV Type: Deletion
Largest CNV size: 20794 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Summary statement in development
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...
Deletion
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
692311
1
1
2
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
187156
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
2951
0
2
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
20794
11
0
11
wisniowiecka-kowalnik_12_ASD_discovery_cases
ASD patients from 132 simplex and 13 multiplex families of Polish descent
145
Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.
Range, 3-26 yrs.
84.83% Male
1000000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
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)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
102538
0
2
2
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
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
15291
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
53465
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
0
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
48108
9
1
10
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
wisniowiecka-kowalnik_12_ASD_discovery_cases
Polish
aCGH
OLIGO V8.0 and V8.1 exon-targeted CMA (MGL/BCM)
BCM web-based software, custom-designed IMiD-web2py software
FISH
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_cases-case16087_1571097001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84305880
84339468
33589
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4201_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83981369
84673680
692312
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005021
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
84669688
84856844
187157
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case99HI0671A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU033403; NDAR ID NDAR_INVFP134WLL)
83453229
83456179
2951
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0807A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
83453229
83456179
2951
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11099.p1
11.4
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 77
85179611
85198752
19142
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11257.p1
5.5
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 118
85179611
85188467
8857
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11609.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
83779792
83781858
2067
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11615.p1
12.6
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 89
83779792
83781858
2067
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11933.p1
8.7
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
85745207
85755954
10748
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11981.p1
6.6
F
Aspergers
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100
85177793
85196745
18953
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12096.p1
11.7
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114
85177793
85196745
18953
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12100.p1
11.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 64; verbal IQ, 87
85177793
85196745
18953
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12643.p1
10.6
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 70; verbal IQ, 40
83189828
83210622
20795
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12901.p1
5.4
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 116; verbal IQ, 110
85179611
85196745
17135
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
84293560
84309665
16106
GRCh38
Deletion
No
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient2
7
F
Autism
Autism, abnormal pattern of EEG at central and parietal CNS regions
85020764
85974970
954207
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlHABC_902644_902644
N/A
N/A
Control
No previous psychiatric history
84407109
84509647
102539
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902685_902685
N/A
N/A
Control
No previous psychiatric history
84253523
84309665
56143
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11350.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
84604242
84619533
15292
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11350.s1
NA
M
Control
NA
NA
84577757
84631221
53465
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11012.s1
6.7
F
Control (matched sibling)
NA
NA
85179611
85188467
8857
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11093.s1
9.8
M
Control (matched sibling)
NA
NA
85179611
85188467
8857
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11099.s1
14.5
F
Control (matched sibling)
NA
NA
85179611
85202941
23331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11257.s1
4.1
M
Control (matched sibling)
NA
NA
85179611
85188467
8857
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11350.s1
6.1
M
Control (matched sibling)
NA
NA
84579048
84627156
48109
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11933.s1
6.8
M
Control (matched sibling)
NA
NA
85745207
85755954
10748
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12096.s1
9.7
M
Control (matched sibling)
NA
NA
85179611
85196745
17135
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12100.s1
13.8
F
Control (matched sibling)
NA
NA
85177793
85196745
18953
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12901.s1
4.1
M
Control (matched sibling)
NA
NA
85179611
85196745
17135
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
84293560
84309665
16106
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case16087_1571097001
Unknown
engchuan_15_ASD_discovery_cases-case4201_1
Unknown
RNU6-774P,RPL3P13,NKX6-1,CDS1,WDFY3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005021
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL552P,WDFY3-AS1,WDFY3
poultney_13_ASD_discovery_cases-case99HI0671A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
HELQ,MRPS18C
poultney_13_ASD_discovery_cases-case99HI0807A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
HELQ,MRPS18C
sanders_11_ASD_discovery_cases-11099.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11257.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11609.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11615.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11933.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ARHGAP24
sanders_11_ASD_discovery_cases-11981.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12096.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12100.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12643.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12901.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient2
FISH
De novo
Unknown
Possibly segregated
RN7SKP48,MIR4451,ARHGAP24
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_902644_902644
Unknown
NKX6-1
engchuan_15_ASD_discovery_controls-controlHABC_902685_902685
Unknown
krumm_15_ASD_discovery_controls-control11350.s1
Illumina 1M
Maternal
CDS1
levy_11_ASD_discovery_controls-11350.s1
Maternal
Simplex
NA
CDS1
sanders_11_ASD_discovery_controls-11012.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11093.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11099.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11257.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11350.s1
Maternal
Simplex (quad)
NA
CDS1
sanders_11_ASD_discovery_controls-11933.s1
Paternal
Simplex (quad)
NA
ARHGAP24
sanders_11_ASD_discovery_controls-12096.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12100.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12901.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13296.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available