1p32.1CNV Type: Deletion-Duplication
Largest CNV size: 110920 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
Functional impact of global rare copy number variation in autism spectrum disorders.
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
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
110919
5
1
6
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
110920
0
1
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)
15366
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
108524
1
1
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
6676
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
14952
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
51186
2
0
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
15364
1
0
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
49128
1
0
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
51087
1
0
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
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)
108524
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.
74749
3
0
3
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
14952
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
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-case14293_4140
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
59321533
59375333
53801
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14364_4780
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
59321533
59367090
45558
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3076_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
59532555
59583741
51187
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4144_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
59532555
59583741
51187
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5241_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
59220247
59331166
110920
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8659_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
59531632
59581983
50352
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5241_3
NA
M
Autism
Average language (47%ile), no language delay, no epilepsy, right 2-3 toe syndactyly, right ear malformation
Low nonverbal IQ (9%ile)
59220247
59331166
110920
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case05HI4195A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1494301; NDAR ID NDAR_INVCC725YC0)
59625986
59641351
15366
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case146441L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
59810141
59821344
11204
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59838
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
59462055
59570578
108524
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-12984.p1
10.1
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 102; verbal IQ, 96
60382866
60389542
6677
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case21
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
58660742
58675693
14952
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
engchuan_15_ASD_discovery_controls-control110036011773_
N/A
N/A
Control
No previous psychiatric history
59532555
59583741
51187
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB529567_1007875209
N/A
N/A
Control
No previous psychiatric history
59532555
59583741
51187
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control14084.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
59625987
59641351
15365
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11154.s1
NA
F
Control
NA
NA
59531558
59580685
49128
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C26443
Control
59769818
59820904
51087
Unknown
Deletion
sanders_11_ASD_discovery_controls-11154.s1
9.9
F
Control (matched sibling)
NA
NA
59532555
59583741
51187
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11629.s1
11
F
Control (matched sibling)
NA
NA
59005618
59080367
74750
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12578.s1
8.8
F
Control (matched sibling)
NA
NA
59531632
59593463
61832
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-case14293_4140
Unknown
FGGY
engchuan_15_ASD_discovery_cases-case14364_4780
Unknown
FGGY
engchuan_15_ASD_discovery_cases-case3076_4
Unknown
FGGY
engchuan_15_ASD_discovery_cases-case4144_1
Unknown
FGGY
engchuan_15_ASD_discovery_cases-case5241_3
Unknown
LINC01358,HSD52,FGGY
engchuan_15_ASD_discovery_cases-case8659_201
Unknown
FGGY
pinto_10_ASD_discovery_cases-case5241_3
Agilent1M
maternal
Multiplex
NA
LINC01358,HSD52,FGGY
poultney_13_ASD_discovery_cases-case05HI4195A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
FGGY
prasad_12_ASD_discovery_cases-case146441L
Unknown
Unknown
Unknown
FGGY
prasad_12_ASD_discovery_cases-case59838
Unknown
Unknown
Unknown
FGGY
sanders_11_ASD_discovery_cases-12984.p1
Maternal
Simplex (quad-proband matched)
Not segregated
yin_16_ASD_discovery_cases-case21
Unknown
Unknown
Unknown
MYSM1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036011773_
Unknown
FGGY
engchuan_15_ASD_discovery_controls-controlB529567_1007875209
Unknown
FGGY
krumm_15_ASD_discovery_controls-control14084.s1
Omni2.5-4v1
Maternal
FGGY
levy_11_ASD_discovery_controls-11154.s1
Paternal
Simplex
NA
FGGY
nord_11_ASD_discovery_controls-04C26443
FGGY
sanders_11_ASD_discovery_controls-11154.s1
Paternal
Simplex (quad)
NA
FGGY
sanders_11_ASD_discovery_controls-11629.s1
Maternal
Simplex (quad)
NA
LINC01358
sanders_11_ASD_discovery_controls-12578.s1
Paternal
Simplex (quad)
NA
FGGY
No Animal Model Data Available