14q32.12CNV Type: Deletion
Largest CNV size: 19558 bp
Statistics Box:
Number of Reports: 7
Number of Reports: 7
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...
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
45111
0
3
3
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
19558
2
0
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
399053
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
594184
1
1
2
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
31657
2
1
3
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
96532
1
1
2
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
15074
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
177892
0
1
1
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
119314
2
0
2
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)
31657
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.
7881
1
1
2
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
96532
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
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
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)
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
gazzellone_14_ASD_discovery_cases-case489-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
1203682
1235570
31889
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case608-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
12086
57197
45112
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case681-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
91955820
91977563
21744
GRCh38
Duplication
No
itsara_10_ASD_discovery_cases-HI2265
NA
NA
Autism
NA
NA
55279
74837
19559
GRCh38
Deletion
Yes
itsara_10_ASD_discovery_cases-HI3322
NA
NA
Autism
NA
NA
55279
74837
19559
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001957
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1
208324
208324
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005168
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1
208324
208324
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11047.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
94331056
94768649
437594
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13628.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
38301
161274
122974
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case104196
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
91771139
91802795
31657
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case96087L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
90987799
90995732
7934
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-caseL051
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
92656332
92666970
10639
Unknown
Deletion
No
yin_16_ASD_discovery_cases-case470
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
91876098
91927966
51869
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case471
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
1292813
1389344
96532
GRCh38
Deletion
No
yuan_23_ASD_discovery_cases-qma01034s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
93332571
93347644
15074
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-controlHABC_900355_900355
N/A
N/A
Control
No previous psychiatric history
1
107629
107629
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11432.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
1141095
1152037
10943
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13628.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
38301
161274
122974
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11246.s1
6.7
F
Control (matched sibling)
NA
NA
92113579
92121460
7882
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12741.s1
5.9
M
Control (matched sibling)
NA
NA
91454174
91458683
4510
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gazzellone_14_ASD_discovery_cases-case489-3
Unknown
Unknown
Unknown
gazzellone_14_ASD_discovery_cases-case608-3
Unknown
Unknown
Unknown
gazzellone_14_ASD_discovery_cases-case681-3
Unknown
Unknown
Unknown
TRIP11
itsara_10_ASD_discovery_cases-HI2265
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
itsara_10_ASD_discovery_cases-HI3322
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001957
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005168
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
krumm_15_ASD_discovery_cases-case11047.p1
Illumina 1M
Maternal
Simplex
Segregated
SERPINA2,SERPINA11,SERPINA13P,RPSAP4,GSC,SERPINA1,SERPINA9,SERPINA4,SERPINA5,SERPINA3,SERPINA12,ADIPOR1P2
krumm_15_ASD_discovery_cases-case13628.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
prasad_12_ASD_discovery_cases-case104196
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case96087L
Unknown
Unknown
Unknown
SMEK1
prasad_12_ASD_discovery_cases-caseL051
Unknown
Unknown
Unknown
0 genes
yin_16_ASD_discovery_cases-case470
Unknown
Unknown
Unknown
FBLN5
yin_16_ASD_discovery_cases-case471
Unknown
Unknown
Unknown
yuan_23_ASD_discovery_cases-qma01034s000
De novo
BTBD7,UNC79,COX8C
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900355_900355
Unknown
krumm_15_ASD_discovery_controls-control11432.s1
Illumina 1M
Paternal
krumm_15_ASD_discovery_controls-control13628.s1
1M-Duov3
Maternal
sanders_11_ASD_discovery_controls-11246.s1
Maternal
Simplex (quad)
NA
NDUFB1
sanders_11_ASD_discovery_controls-12741.s1
Both parents
Simplex (quad)
NA
PPP4R3A
No Animal Model Data Available