13q21.32CNV Type: Deletion-Duplication
Largest CNV size: 830600 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
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.
Deletion-Duplication
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
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
84143
1
0
1
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
256077
3
2
5
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
118427
2
0
2
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
15501
1
0
1
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
214978
0
1
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
980666
1
1
2
mahjani_22_OCD/CTD_discovery_cases
Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
1210
993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
Age of at least 16 yrs. (in the year 1997).
42.15% Male
1006137
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
189438
0
2
2
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
93000
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
44608
1
0
1
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
138115
0
1
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
140069
2
2
4
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
104766
8
2
10
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
830600
0
3
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
152917
1
0
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
1005814
0
1
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
447883
7
3
10
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
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
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.
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)
140069
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.
66954
4
1
5
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
152917
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
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
aCGH (NimbleGen 135K array)
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
mahjani_22_OCD/CTD_discovery_cases
Sweden
Solid phase hybridization
Illumina Infinium Global Screening Array
QuantiSNP, PennCNV, cnvPartition v.3.2.1
CNVision, Illumina GenomeStudio v.2.0
None
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
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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)
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
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
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
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
akter_23_ASD/ADHD/DD/ID_discovery_cases-case113
2.5 yrs.
M
Developmental delay
Speech delay, restlessness, frequent falls. Growth parameters: height 0.86 m, weight 13 kg, head circumference 52 cm. Family history: born to non-consanguineous parents.
66789270
66873412
84143
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14258_3810
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65862615
65904093
41479
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14283_4060
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66495577
66751654
256078
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20147_1562001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66708778
66770781
62004
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4180_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66998089
67119050
120962
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5139_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67015805
67153919
138115
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU0714301
Autism
65265526
65383952
118427
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1469302
Autism
66195899
66242914
47016
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU045903
Autism
66402845
66418345
15501
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-13708.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
66908337
67123315
214979
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001742
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
65645518
66626184
980667
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004816
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
66552004
67123174
571171
GRCh38
Deletion
Yes
mahjani_22_OCD/CTD_discovery_cases-case52
NA
M
Chronic tic disorder
Case diagnosed with chronic tic disorder (CTD).
65640169
66646305
1006137
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-MM0299-003
NA
F
ASD
Language nonverbal, moderate repetitive behavior, hypotonia, fine motor delay
IQ/LOF 43
67015766
67188167
172402
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0023-003
NA
M
ASD
RL/EL moderate/severe delay, moderate speech unintelligibility and repetitive behavior, seizures
IQ/LOF 82
66998718
67188156
189439
GRCh38
Duplication
Yes
morrow_08_ASD_discovery_cases-case4504
NA
ASD
NA
NA
66136000
66229000
93000
Unknown
Deletion
No
nord_11_ASD_discovery_cases-256-1
ASD
66260893
66305500
44608
Unknown
Deletion
No
pinto_10_ASD_discovery_cases-case5139_3
NA
F
ASD
NA
NA
67015805
67153919
138115
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case51674
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
66489321
66626322
137002
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case71182
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
66247958
66332331
84374
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case82369L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
66486254
66626322
140069
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case84319
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
65997654
66067979
70326
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11176.p1
12.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
66666546
66675717
9172
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11176.p1
12.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
67429915
67439215
9301
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11610.p1
7.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 138; verbal IQ, 99
65186368
65269590
83223
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11773.p1
13.1
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 28
66673747
66778513
104767
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12044.p1
5.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
66968422
66992188
23767
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12052.p1
7.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
64722794
64734525
11732
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
67317097
67319179
2083
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12536.p1
5.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 81
64834295
64889707
55413
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12671.p1
12.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 98; verbal IQ, 108
66405129
66414981
9853
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12976.p1
4.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ, 82
66650672
66745593
94922
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR031-A8-3212.005
NA
ASD
NA
NA
65326567
65847267
520701
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR044-C3-01C06329
NA
ASD
NA
NA
65648567
66479167
830601
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR044-C5-01C06331
NA
ASD
NA
NA
65648567
66479167
830601
GRCh38
Duplication
Yes
yin_16_ASD_discovery_cases-case449
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
66862957
67015873
152917
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-1010-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
65640170
66645983
1005814
GRCh38
Duplication
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-controlB170205_1007854723
N/A
N/A
Control
No previous psychiatric history
65208033
65650641
442609
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB191955_1007874255
N/A
N/A
Control
No previous psychiatric history
66243775
66687242
443468
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB391985_1007840230
N/A
N/A
Control
No previous psychiatric history
67014588
67153919
139332
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB490963_1007853895
N/A
N/A
Control
No previous psychiatric history
66243775
66691658
447884
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB644835_1007854719
N/A
N/A
Control
No previous psychiatric history
67013182
67081118
67937
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB775247_1007852660
N/A
N/A
Control
No previous psychiatric history
65787695
65912256
124562
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900456_900456
N/A
N/A
Control
No previous psychiatric history
65115876
65166183
50308
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901027_901027
N/A
N/A
Control
No previous psychiatric history
66721018
66831333
110316
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902816_902816
N/A
N/A
Control
No previous psychiatric history
66212298
66275836
63539
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902975_901251
N/A
N/A
Control
No previous psychiatric history
65254312
65336660
82349
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11135.s1
12.9
F
Control (matched sibling)
NA
NA
66736977
66803931
66955
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11724.s1
14.5
F
Control (matched sibling)
NA
NA
67413910
67424466
10557
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12044.s1
8.8
M
Control (matched sibling)
NA
NA
66968422
66992188
23767
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12052.s1
5.4
F
Control (matched sibling)
NA
NA
64722794
64734525
11732
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12061.s1
8.4
M
Control (matched sibling)
NA
NA
67317097
67319179
2083
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case113
Unknown
PCDH9-AS2,PCDH9
engchuan_15_ASD_discovery_cases-case14258_3810
Unknown
LINC01052
engchuan_15_ASD_discovery_cases-case14283_4060
Unknown
RNU7-87P,PCDH9
engchuan_15_ASD_discovery_cases-case20147_1562001
Unknown
PCDH9
engchuan_15_ASD_discovery_cases-case4180_1
Unknown
PCDH9-AS4,PCDH9
engchuan_15_ASD_discovery_cases-case5139_3
Unknown
PCDH9
gai_11_ASD_discovery_cases-AU0714301
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1469302
Inherited
PCDH9 (intronic)
gai_11_ASD_replication_cases-AU045903
Inherited
PCDH9 (intronic)
girirajan_13a_ASD_discovery_cases-13708.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
PCDH9-AS4,PCDH9-AS2,PCDH9-AS3,PCDH9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001742
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HNRNPA3P5,LINC01052,MIR548X2,MIR4704,TRIM60P19,PCDH9-AS1,PCDH9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004816
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNU7-87P,PCDH9-AS4,PCDH9-AS2,PCDH9-AS3,PCDH9
mahjani_22_OCD/CTD_discovery_cases-case52
Unknown
HNRNPA3P5,MIR548X2,MIR4704,TRIM60P19,PCDH9-AS1,RNU7-87P,PCDH9,LINC01052
marshall_08_ASD_discovery_cases-MM0299-003
qPCR, qmPCR
Paternal
Multiplex
NA
PCDH9
marshall_08_ASD_discovery_cases-SK0023-003
qPCR, qmPCR
Unknown
Simplex
NA
PCDH9-AS4,PCDH9
morrow_08_ASD_discovery_cases-case4504
Maternal
Multiplex
NA
PCDH9
nord_11_ASD_discovery_cases-256-1
Maternal
PCDH9
pinto_10_ASD_discovery_cases-case5139_3
Agilent1M
paternal
NA
NA
PCDH9
prasad_12_ASD_discovery_cases-case51674
Unknown
Unknown
Unknown
PCDH9
prasad_12_ASD_discovery_cases-case71182
Unknown
Unknown
Unknown
PCDH9
prasad_12_ASD_discovery_cases-case82369L
Unknown
Unknown
Unknown
PCDH9
prasad_12_ASD_discovery_cases-case84319
Unknown
Unknown
Unknown
PCDH9
sanders_11_ASD_discovery_cases-11176.p1
Maternal
Simplex (quad-proband matched)
Segregated
PCDH9
sanders_11_ASD_discovery_cases-11176.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11610.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11773.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH9
sanders_11_ASD_discovery_cases-12044.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH9-AS4,PCDH9-AS3,PCDH9
sanders_11_ASD_discovery_cases-12052.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12061.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12536.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12671.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH9
sanders_11_ASD_discovery_cases-12976.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH9
szatmari_07_ASD_discovery_cases-NAAR031-A8-3212.005
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
HNRNPA3P5
szatmari_07_ASD_discovery_cases-NAAR044-C3-01C06329
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
HNRNPA3P5,LINC01052,MIR548X2,MIR4704,TRIM60P19,PCDH9-AS1,PCDH9
szatmari_07_ASD_discovery_cases-NAAR044-C5-01C06331
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
HNRNPA3P5,LINC01052,MIR548X2,MIR4704,TRIM60P19,PCDH9-AS1,PCDH9
yin_16_ASD_discovery_cases-case449
Unknown
Unknown
Unknown
PCDH9-AS4,PCDH9-AS2,PCDH9-AS3,PCDH9
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-1010-003
RT-qPCR or WGS
Maternal
HNRNPA3P5,MIR548X2,MIR4704,TRIM60P19,RNU7-87P,LINC01052,PCDH9-AS1,PCDH9
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB170205_1007854723
Unknown
STARP1
engchuan_15_ASD_discovery_controls-controlB191955_1007874255
Unknown
TRIM60P19,RNU7-87P,PCDH9-AS1,PCDH9
engchuan_15_ASD_discovery_controls-controlB391985_1007840230
Unknown
PCDH9
engchuan_15_ASD_discovery_controls-controlB490963_1007853895
Unknown
TRIM60P19,RNU7-87P,PCDH9-AS1,PCDH9
engchuan_15_ASD_discovery_controls-controlB644835_1007854719
Unknown
PCDH9
engchuan_15_ASD_discovery_controls-controlB775247_1007852660
Unknown
HNRNPA3P5,LINC01052
engchuan_15_ASD_discovery_controls-controlHABC_900456_900456
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901027_901027
Unknown
PCDH9-AS2,PCDH9
engchuan_15_ASD_discovery_controls-controlHABC_902816_902816
Unknown
MIR4704,TRIM60P19
engchuan_15_ASD_discovery_controls-controlHABC_902975_901251
Unknown
STARP1
sanders_11_ASD_discovery_controls-11135.s1
Paternal
Simplex (quad)
NA
PCDH9
sanders_11_ASD_discovery_controls-11724.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12044.s1
Maternal
Simplex (quad)
NA
PCDH9-AS4,PCDH9-AS3,PCDH9
sanders_11_ASD_discovery_controls-12052.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12061.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available