8q21.3CNV Type: Deletion-Duplication
Largest CNV size: 821174 bp
Statistics Box:
Number of Reports: 14
Number of Reports: 14
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.
Deletion-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
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-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion-Duplication
Copy number variation in Han Chinese individuals with 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
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
100000
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
821173
3
7
10
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
218124
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
73259
1
3
4
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
269249
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
268178
1
1
2
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
41997
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
147000
1
1
2
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
821174
0
2
2
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
290989
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
158046
2
1
3
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
266985
18
3
21
tropeano_16_ASD_discovery_cases
ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
90
Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
Adult age (20 yrs.+)
N/A
1088655
0
1
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
9359
2
0
2
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
1065878
6
5
11
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
73259
2
1
3
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
269249
0
1
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
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)
15869
0
1
1
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)
158046
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.
266985
11
3
14
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
9359
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
qPCR
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
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)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
tropeano_16_ASD_discovery_cases
United Kingdom
aCGH
Agilent 60K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench
MLPA, aCGH
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
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
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
digregorio_17_DD/ID_discovery_cases-DECIPHER_283767
N/A
M
Developmental delay/intellectual disability
90599542
90700279
100738
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13027_353
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86165408
86321739
156332
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16050_1571109001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86188898
86318484
129587
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20034_1229001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
88593307
88884295
290989
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20090_1392002
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
88816591
88863765
47175
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3450_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
88767969
89125679
357711
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4232_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
91109477
91171430
61954
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4271_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86154955
86321739
166785
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4456_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86801299
86844234
42936
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5120_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86165408
86321739
156332
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5347_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
88395592
89216765
821174
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case523-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
88762688
88980812
218125
GRCh38
Deletion
No
krumm_15_ASD_discovery_cases-case11202.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
91124492
91135739
11248
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11236.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
86548300
86556338
8039
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11839.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
86866495
86939754
73260
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13234.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
86214412
86230277
15866
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11839.p1
NA
M
ASD
NA
NA
86819851
87089099
269249
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-MM0218-004
NA
M
ASD
NA
NA
88517616
88597455
79840
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-MM0241-004
NA
M
ASD
NA
NA
86149466
86417643
268178
GRCh38
Duplication
Yes
mosca_16_DCD_discovery_cases-case105004
N/A
M
DCD/ADHD/PDD
Ancestry: European. Family history: maternal diagnosis unknown; paternal diagnosis unknown; sibling diagnosis unknown.
87345923
87387919
41997
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam1027Proband10761
N/A
M
ASD
Additional clinical profile info N/A
ID
91115280
91171430
56151
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam222Proband7741
N/A
M
ASD
Additional clinical profile info N/A
ID
86174821
86321739
146919
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5120_3
NA
M
ASD
NA
NA
86165408
86321739
156332
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5347_3
NA
M
Autism
Language delay, no epilepsy, no dysmorphic features
Average IQ
88395592
89216765
821174
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case20034_1229001
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
88593307
88884295
290989
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case154267L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
92184955
92254949
69995
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case45549
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
87244129
87402174
158046
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case45554
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
89596606
89678724
82119
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11098.p1
9.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
89648021
89763805
115785
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11148.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 82; verbal IQ, 99
89824005
89845761
21757
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11202.p1
11.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
91103594
91171430
67837
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11245.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
88677240
88700771
23532
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11263.p1
13.2
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 92
89603395
89630713
27319
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11336.p1
10.4
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
88677240
88700771
23532
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11348.p1
7.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 64
91087624
91175510
87887
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11456.p1
8.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 77
88677240
88700771
23532
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11476.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 99
88515083
88595208
80126
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
89516616
89534750
18135
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11839.p1
4
M
ASD
NA
Full-scale IQ, 100; non-verbal IQ, 101; verbal IQ, 99
86821483
87088468
266986
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12050.p1
5.5
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 64
88677240
88700771
23532
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12219.p1
7.2
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 136
89824005
89845761
21757
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12331.p1
12.3
M
Aspergers
NA
Full-scale IQ, 115; non-verbal IQ, 114; verbal IQ, 111
88677240
88700771
23532
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12477.p1
14.1
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 28; verbal IQ, 27
88515083
88598551
83469
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12483.p1
15.5
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 92; verbal IQ, 102
88677240
88700771
23532
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12582.p1
6.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
91103594
91175510
71917
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13152.p1
7.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 78
91109477
91171430
61954
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13187.p1
9.5
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 83; verbal IQ, 86
88677240
88700771
23532
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13251.p1
7.7
F
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
87358076
87537516
179441
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13251.p1
7.7
F
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
89678365
89705148
26784
GRCh38
Deletion
No
tropeano_16_ASD_discovery_cases-MAAS9
40-49 yrs.
M
ASD
Case diagnosed with Asperger's syndrome based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R.
88546334
89634990
1088657
GRCh38
Duplication
Yes
yin_16_ASD_discovery_cases-case323
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
91097409
91106767
9359
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case324
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
91097409
91106767
9359
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-controlB313404_1007873600
N/A
N/A
Control
No previous psychiatric history
89603395
89705148
101754
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB313404_1007873600
N/A
N/A
Control
No previous psychiatric history
88486007
89551885
1065879
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB370005_1007844590
N/A
N/A
Control
No previous psychiatric history
88515083
88595208
80126
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB962764_1007843925
N/A
N/A
Control
No previous psychiatric history
87016522
87259224
242703
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900921_900921
N/A
N/A
Control
No previous psychiatric history
87731541
87774549
43009
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901060_901060
N/A
N/A
Control
No previous psychiatric history
86165408
86321739
156332
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901151_901151
N/A
N/A
Control
No previous psychiatric history
86399325
86568716
169392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901173_901173
N/A
N/A
Control
No previous psychiatric history
89090571
89154200
63630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901209_901209
N/A
N/A
Control
No previous psychiatric history
86192042
86362425
170384
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902551_902551
N/A
N/A
Control
No previous psychiatric history
88383740
88440694
56955
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902630_902630
N/A
N/A
Control
No previous psychiatric history
86160483
86321739
161257
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11378.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
91389337
91395097
5761
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11839.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
86866495
86939754
73260
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12115.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
91124492
91135739
11248
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11839.s1
NA
F
Control
NA
NA
86819851
87089099
269249
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C27199A
N/A
M
Control
NIMH Control (NIMH ID 77187)
86214411
86230279
15869
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11046.s1
5.7
M
Control (matched sibling)
NA
NA
91109477
91171430
61954
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11121.s1
16.2
F
Control (matched sibling)
NA
NA
88677240
88700771
23532
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11193.s1
4.8
F
Control (matched sibling)
NA
NA
88509500
88626727
117228
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11263.s1
15.9
F
Control (matched sibling)
NA
NA
89610999
89630713
19715
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11348.s1
9.2
F
Control (matched sibling)
NA
NA
91109477
91171430
61954
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11378.s1
11.2
M
Control (matched sibling)
NA
NA
91379642
91397220
17579
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11412.s1
10.5
F
Control (matched sibling)
NA
NA
88925996
88928985
2990
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11497.s1
5.1
M
Control (matched sibling)
NA
NA
87728701
87834728
106028
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11839.s1
4
F
Control (matched sibling)
NA
NA
86821483
87088468
266986
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12041.s1
4.3
M
Control (matched sibling)
NA
NA
89516616
89534750
18135
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12115.s1
8.5
M
Control (matched sibling)
NA
NA
91103594
91175510
71917
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12444.s1
7
M
Control (matched sibling)
NA
NA
88515083
88554674
39592
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12499.s1
9.4
M
Control (matched sibling)
NA
NA
91103594
91171430
67837
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13187.s1
6
M
Control (matched sibling)
NA
NA
88677240
88700771
23532
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
digregorio_17_DD/ID_discovery_cases-DECIPHER_283767
Paternal
LINC01030,TMEM64
engchuan_15_ASD_discovery_cases-case13027_353
Unknown
SLC7A13
engchuan_15_ASD_discovery_cases-case16050_1571109001
Unknown
SLC7A13
engchuan_15_ASD_discovery_cases-case20034_1229001
Unknown
engchuan_15_ASD_discovery_cases-case20090_1392002
Unknown
engchuan_15_ASD_discovery_cases-case3450_3
Unknown
engchuan_15_ASD_discovery_cases-case4232_1
Unknown
LRRC69
engchuan_15_ASD_discovery_cases-case4271_1
Unknown
SLC7A13
engchuan_15_ASD_discovery_cases-case4456_1
Unknown
engchuan_15_ASD_discovery_cases-case5120_3
Unknown
SLC7A13
engchuan_15_ASD_discovery_cases-case5347_3
Unknown
RNA5SP272
gazzellone_14_ASD_discovery_cases-case523-3
Unknown
Unknown
Unknown
krumm_15_ASD_discovery_cases-case11202.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
LRRC69
krumm_15_ASD_discovery_cases-case11236.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
CPNE3,CNGB3
krumm_15_ASD_discovery_cases-case11839.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CNBD1
krumm_15_ASD_discovery_cases-case13234.p1
1M-Duov3
Paternal
Simplex
Segregated
SLC7A13
levy_11_ASD_discovery_cases-11839.p1
Paternal
Simplex
Not segregated
CNBD1
marshall_08_ASD_discovery_cases-MM0218-004
qPCR, qmPCR
Unknown
NA
NA
marshall_08_ASD_discovery_cases-MM0241-004
qPCR, qmPCR
Unknown
NA
NA
ATP6V0D2,SLC7A13,WWP1
mosca_16_DCD_discovery_cases-case105004
qPCR
Unknown
Unknown
Unknown
CNBD1
nava_13_ASD_discovery_cases-Fam1027Proband10761
Unknown
Simplex
Unknown
LRRC69
nava_13_ASD_discovery_cases-Fam222Proband7741
Paternal
Simplex
Unknown
SLC7A13
pinto_10_ASD_discovery_cases-case5120_3
Agilent1M
maternal
NA
NA
SLC7A13
pinto_10_ASD_discovery_cases-case5347_3
Agilent1M
paternal
Simplex
NA
RNA5SP272
pinto_14_ASD_discovery_cases2-case20034_1229001
qPCR
Paternal
Simplex
(not tested)
prasad_12_ASD_discovery_cases-case154267L
Unknown
Simplex
Unknown
LRRC69
prasad_12_ASD_discovery_cases-case45549
Unknown
Unknown
Unknown
SLC7A13
prasad_12_ASD_discovery_cases-case45554
Unknown
Multiplex
Unknown
0 genes
sanders_11_ASD_discovery_cases-11098.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RIPK2
sanders_11_ASD_discovery_cases-11148.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11202.p1
Maternal
Simplex (trio)
NA
LRRC69
sanders_11_ASD_discovery_cases-11245.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11263.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11336.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11348.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LRRC69
sanders_11_ASD_discovery_cases-11456.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11476.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11704.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11839.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CNBD1
sanders_11_ASD_discovery_cases-12050.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12219.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12331.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12477.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12483.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12582.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LRRC69
sanders_11_ASD_discovery_cases-13152.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
LRRC69
sanders_11_ASD_discovery_cases-13187.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13251.p1
Maternal
Simplex (quad-proband matched)
Segregated
CNBD1
sanders_11_ASD_discovery_cases-13251.p1
Paternal
Simplex (quad-proband matched)
Not segregated
tropeano_16_ASD_discovery_cases-MAAS9
MLPA or aCGH
Unknown
Unknown
Unknown
KRT8P4,RPSAP74
yin_16_ASD_discovery_cases-case323
Unknown
Unknown
Unknown
LRRC69
yin_16_ASD_discovery_cases-case324
Unknown
Unknown
Unknown
LRRC69
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB313404_1007873600
Unknown
engchuan_15_ASD_discovery_controls-controlB313404_1007873600
Unknown
KRT8P4,RPSAP74
engchuan_15_ASD_discovery_controls-controlB370005_1007844590
Unknown
engchuan_15_ASD_discovery_controls-controlB962764_1007843925
Unknown
CNBD1
engchuan_15_ASD_discovery_controls-controlHABC_900921_900921
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901060_901060
Unknown
SLC7A13
engchuan_15_ASD_discovery_controls-controlHABC_901151_901151
Unknown
NTAN1P2,SLC2A3P4,CPNE3,WWP1,RMDN1,CNGB3
engchuan_15_ASD_discovery_controls-controlHABC_901173_901173
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901209_901209
Unknown
SLC7A13,WWP1
engchuan_15_ASD_discovery_controls-controlHABC_902551_902551
Unknown
RNA5SP272
engchuan_15_ASD_discovery_controls-controlHABC_902630_902630
Unknown
SLC7A13
krumm_15_ASD_discovery_controls-control11378.s1
Illumina 1M
Maternal
SLC26A7
krumm_15_ASD_discovery_controls-control11839.s1
Illumina 1MDuo
Paternal
CNBD1
krumm_15_ASD_discovery_controls-control12115.s1
Illumina 1MDuo
Maternal
LRRC69
levy_11_ASD_discovery_controls-11839.s1
Paternal
Simplex
NA
CNBD1
poultney_13_ASD_discovery_controls-control04C27199A
Unknown
SLC7A13
sanders_11_ASD_discovery_controls-11046.s1
Maternal
Simplex (quad)
NA
LRRC69
sanders_11_ASD_discovery_controls-11121.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11193.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11263.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11348.s1
Paternal
Simplex (quad)
NA
LRRC69
sanders_11_ASD_discovery_controls-11378.s1
Maternal
Simplex (quad)
NA
SLC26A7
sanders_11_ASD_discovery_controls-11412.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11497.s1
Unknown
Simplex (quad)
NA
SOX5P1
sanders_11_ASD_discovery_controls-11839.s1
Paternal
Simplex (quad)
NA
CNBD1
sanders_11_ASD_discovery_controls-12041.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12115.s1
Maternal
Simplex (quad)
NA
LRRC69
sanders_11_ASD_discovery_controls-12444.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12499.s1
Paternal
Simplex (quad)
NA
LRRC69
sanders_11_ASD_discovery_controls-13187.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available