1p32.2CNV Type: Deletion-Duplication
Largest CNV size: 578396 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
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
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
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
570460
0
2
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
667446
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
578396
0
1
1
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
151000
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
567399
0
1
1
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
18623
1
3
4
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
97518
1
1
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_13_ASD_discovery_controls
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)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
1261
1
0
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
567399
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.
61854
4
1
5
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
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
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_13_ASD_discovery_controls
N/A
WES
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)
DNACopy, CGHCall
CoNIFER
None
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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-case14047_820
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
56973246
57015611
42366
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5260_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57759701
58330161
570461
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004663
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
57536618
58204064
667447
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0036-003
NA
F
ASD
NA
NA
57758540
58336936
578397
GRCh38
Duplication
Yes
monteiro_19_ASD_discovery_cases_case1
6 yrs.
M
ASD and intellectual disability
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Dysmorphic features: none reported. Family history: 1p32.2 deletion inherited from a healthy parent.
Intellectual disability
58062158
58213134
150977
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case68388
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
58000072
58567470
567399
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11159.p1
12.9
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 109; verbal IQ, 130
58256638
58267378
10741
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11364.p1
10.1
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 106; verbal IQ, 104
58248755
58267378
18624
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11456.p1
8.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 77
58104027
58112940
8914
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13038.p1
8.8
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 94; verbal IQ, 100
58256638
58267378
10741
GRCh38
Duplication
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
engchuan_15_ASD_discovery_controls-controlB582098_1007870332
N/A
N/A
Control
No previous psychiatric history
57024401
57063878
39478
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900677_900677
N/A
N/A
Control
No previous psychiatric history
58012127
58109645
97519
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control13346.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13346. SRS score of 60.
56874948
56876209
1262
GRCh38
Deletion
No (not tested)
sanders_11_ASD_discovery_controls-11456.s1
11.3
M
Control (matched sibling)
NA
NA
58104027
58112940
8914
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11919.s1
6.7
M
Control (matched sibling)
NA
NA
58094438
58156292
61855
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11959.s1
9.7
F
Control (matched sibling)
NA
NA
58104027
58112940
8914
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12340.s1
10.3
F
Control (matched sibling)
NA
NA
57495765
57501140
5376
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13038.s1
5.8
M
Control (matched sibling)
NA
NA
58256638
58267378
10741
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case14047_820
Unknown
DAB1
engchuan_15_ASD_discovery_cases-case5260_3
Unknown
RPS26P15,DAB1-AS1,HNRNPA1P6,DAB1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004663
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RPS26P15,RPS20P5,DAB1-AS1,HNRNPA1P6,DAB1
marshall_08_ASD_discovery_cases-SK0036-003
qPCR, qmPCR
Unknown
NA
NA
RPS26P15,DAB1-AS1,HNRNPA1P6,DAB1
monteiro_19_ASD_discovery_cases_case1
Paternal
DAB1
prasad_12_ASD_discovery_cases-case68388
Unknown
Unknown
Unknown
DAB1
sanders_11_ASD_discovery_cases-11159.p1
Paternal
Simplex (quad-proband matched)
Segregated
DAB1
sanders_11_ASD_discovery_cases-11364.p1
Maternal
Simplex (quad-proband matched)
Segregated
DAB1
sanders_11_ASD_discovery_cases-11456.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DAB1
sanders_11_ASD_discovery_cases-13038.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DAB1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB582098_1007870332
Unknown
DAB1
engchuan_15_ASD_discovery_controls-controlHABC_900677_900677
Unknown
RPS26P15,HNRNPA1P6,DAB1
krumm_13_ASD_discovery_controls-control13346.s1
Maternal
Simplex
C8A
sanders_11_ASD_discovery_controls-11456.s1
Maternal
Simplex (quad)
NA
DAB1
sanders_11_ASD_discovery_controls-11919.s1
Maternal
Simplex (quad)
NA
DAB1
sanders_11_ASD_discovery_controls-11959.s1
Paternal
Simplex (quad)
NA
DAB1
sanders_11_ASD_discovery_controls-12340.s1
Paternal
Simplex (quad)
NA
DAB1
sanders_11_ASD_discovery_controls-13038.s1
Maternal
Simplex (quad)
NA
DAB1
No Animal Model Data Available