8q22.1CNV Type: Deletion-Duplication
Largest CNV size: 44076 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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype.
Deletion
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
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
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
8926
1
0
1
brand_15_ASD_discovery_cases
ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
259
Diagnosis of ASD
N/A
N/A
149851
0
4
4
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
96
0
1
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
159546
1
0
1
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
38391
1
0
1
jain_10_ASD_discovery_cases
6-year-old boy born to healthy non-consanguineous couple of South Asian descent presenting with speech delay and ASD.
1
Case met diagnostic criteria for ASD (diagnostic tools not reported).
6 yrs.
Male
1600000
1
0
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
5036600
2
1
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
128609
0
3
3
leblond_19_ASD_discovery_cases
Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
36
All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
N/A
77.78% Male
76010
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)
412417
1
2
3
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
26323
2
0
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
44076
10
1
11
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
152000
0
1
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
wintle_10_ASD_discovery_cases
Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)
34
26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome
Mean, 25.97 18.93
73.53% Male
39400
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
4973
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
908726
2
3
5
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
112506
0
1
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.
19503
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)
75742
0
5
5
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)
26323
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.
44076
9
1
10
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
wintle_10_ASD_discovery_controls_2
Control samples from POPGEN (n=1123) & Ottawa Heart Institute (n=1234); used for identification of rare CNVs in Affymetrix data
2357
Controls
51.3% Male
39400
0
0
0
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
4973
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
brand_15_ASD_discovery_cases
N/A
Long-insert WGS
Long-insert whole genome sequencing
LUMPY, cn.MOPS, SV classifier
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
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
jain_10_ASD_discovery_cases
South Asian
aCGH
SignatureChipOSTM 135K (Roche NimbleGen)
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_19_ASD_discovery_cases
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
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
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
wintle_10_ASD_discovery_cases
31 European, 2 East Asian, 1 African
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Human 1M-duo
PennCNV, Birdsuite, iPattern
QuantiSNP, Affymetrix Genotyping Console
Solid phase hybridization
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
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)
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
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
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
wintle_10_ASD_discovery_controls_2
99% European
N/A
N/A
N/A
N/A
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
brandler_18_ASD_replication_cases-caseMSSNG00103-004
N/A
M
ASD
Case from MSSNG cohort
94702654
94711579
8926
GRCh38
Deletion
No
brand_15_ASD_discovery_cases-case20
N/A
N/A
ASD
Long-insert WGS identified a dup-dup-Inv-Inv-dup involving chromosome 8 in this case. Duplication not previously identified by aCGH.
95933457
95934458
1002
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case20
N/A
N/A
ASD
Long-insert WGS identified a dup-dup-Inv-Inv-dup involving chromosome 8 in this case. Duplication previously identified in aCGH (chr8:96831938-96946291; hg19).
95815396
95933464
118069
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case20
N/A
N/A
ASD
Long-insert WGS identified a dup-dup-Inv-Inv-dup involving chromosome 8 in this case. Duplication previously identified in aCGH (chr8:96019256-96154856; hg19).
94991521
95141372
149852
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case20
N/A
N/A
ASD
Long-insert WGS identified a dup-dup-Inv-Inv-dup involving chromosome 8 in this case. Duplication not previously identified by aCGH.
95815343
95815399
57
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11461
NA
M
ASD
NA
NA
95134456
95134552
97
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4527_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
95381442
95540988
159547
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case663-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
93854579
93892970
38392
GRCh38
Deletion
No
jain_10_ASD_discovery_cases-case1
6 yrs.
M
ASD
Case met diagnostic criteria for ASD (diagnostic tools not reported). Birth/neonatal history: born at term; birth weight 3.3 kg (25th-50th %ile). Developmental milestones: delayed speech and social development, with apparently normal gross motor skills, noted at 2 years of age; no eye contact at 2.5 years of age. Language and communication evaluation: used 2-3 words per sentence; speech skills considered to be below age norms. Behavioral/psychiatric evaluation: psychological assessment indicated that the case met diagnostic criteria for ASD. Dysmorphic features: slight elongation of palpebral fissures, minimally thickened ear helices, otherwise strikingly non-dysmorphic; two small cafe au lait macules, large hemangioma on right calf. Growth parameters: head circumference of 51.5 cm (50th %ile), weight of 18 kg (25th-50th %ile), height of 110 cm (25th-50th %ile). Family history: born to healthy nonconsanguineous couple.
93722257
95327818
1605562
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004038
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
94283890
94959597
675708
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004736
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
96065893
97276981
1211089
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005342
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
92755532
97792132
5036601
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12930.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
97724585
97851487
126903
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12932.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
97724585
97851487
126903
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13104.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
97722878
97851487
128610
GRCh38
Duplication
Yes
leblond_19_ASD_discovery_cases-casePN400528
N/A
F
ASD
Diagnosis of Asperger syndrome (ADOS=18). Additional medical history: primary diurnal enuresis, hypersensitivity to sound.
Full-scale IQ 85, performance IQ 97, verbal IQ 78
97775530
97851537
76008
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3269A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1169302; NDAR ID NDAR_INVCC197XMD)
97805351
97851476
46126
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3426A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1312302; NDAR ID NDAR_INVBJ964ZVR)
97805351
97851476
46126
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0489B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU014505; NDAR ID NDAR_INVHD431YKU)
94856775
95269191
412417
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case72816L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
98262093
98281904
19812
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-caseMM0234-5
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
98255582
98281904
26323
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
95067528
95075810
8283
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
93993871
93994352
482
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11484.p1
10.8
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 104
97181661
97200497
18837
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11510.p1
8.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
97596597
97640673
44077
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11587.p1
12.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 111; verbal IQ, 144
97181661
97200497
18837
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12057.p1
12.1
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 29
94622722
94631760
9039
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12117.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
95067528
95069340
1813
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12118.p1
12.6
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
96958891
96968881
9991
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12366.p1
4
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 111; verbal IQ, 97
93995643
94003054
7412
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13031.p1
5.1
F
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
96958891
96968881
9991
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13222.p1
17.1
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
93472314
93481519
9206
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseBAK42
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
96139272
96291709
152438
GRCh38
Duplication
No
wintle_10_ASD_discovery_cases-AN10949
26
M
Epilepsy
Epilepsy
94184199
94223584
39386
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case325
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
94543826
94548798
4973
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-control110036020865_
N/A
N/A
Control
No previous psychiatric history
93010918
93919644
908727
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB986059_1007872554
N/A
N/A
Control
No previous psychiatric history
95624684
95752030
127347
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900105_900105
N/A
N/A
Control
No previous psychiatric history
96419793
96529915
110123
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900997_900997
N/A
N/A
Control
No previous psychiatric history
93896022
94242250
346229
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901147_901147
N/A
N/A
Control
No previous psychiatric history
97174858
97210490
35633
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control12308.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
97775736
97888242
112507
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C27523
Control
98262325
98281827
19503
Unknown
Deletion
poultney_13_ASD_discovery_controls-control04C26931A
N/A
F
Control
NIMH Control (NIMH ID 32123)
97805351
97851476
46126
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C28500A
N/A
M
Control
NIMH Control (NIMH ID 92463)
97805351
97851476
46126
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C36026A
N/A
F
Control
NIMH Control (NIMH ID 68324)
97805351
97851476
46126
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C41190A
N/A
M
Control
NIMH Control (NIMH ID 73659)
97775735
97851476
75742
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C42426A
N/A
F
Control
NIMH Control (NIMH ID 48195)
97775735
97851476
75742
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11484.s1
14.4
M
Control (matched sibling)
NA
NA
97181661
97200497
18837
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11510.s1
6.8
F
Control (matched sibling)
NA
NA
97596597
97640673
44077
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11587.s1
10.3
F
Control (matched sibling)
NA
NA
97181661
97200497
18837
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11918.s1
12.3
M
Control (matched sibling)
NA
NA
95067528
95069340
1813
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11918.s1
12.3
M
Control (matched sibling)
NA
NA
94546466
94546958
493
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12057.s1
14.3
F
Control (matched sibling)
NA
NA
94622722
94631760
9039
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12118.s1
14.8
F
Control (matched sibling)
NA
NA
96958891
96968881
9991
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12231.s1
12.3
F
Control (matched sibling)
NA
NA
96958891
96968881
9991
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12335.s1
4.7
F
Control (matched sibling)
NA
NA
94434280
94435677
1398
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
96958891
96968881
9991
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseMSSNG00103-004
No validation step reported
De novo
ESRP1
brand_15_ASD_discovery_cases-case20
Paternal
Simplex
Unknown
brand_15_ASD_discovery_cases-case20
Paternal
Simplex
Unknown
brand_15_ASD_discovery_cases-case20
Paternal
Simplex
Unknown
RNU6-1209P,MIR3150BHG,MIR3150B,MIR3150A,PLEKHF2,NDUFAF6
brand_15_ASD_discovery_cases-case20
Paternal
Simplex
Unknown
celestino-soper_11_ASD_discovery_cases-11461
Unknown
Simplex
NA
PLEKHF2
engchuan_15_ASD_discovery_cases-case4527_1
Unknown
C8orf37-AS1
gazzellone_14_ASD_discovery_cases-case663-3
Unknown
Unknown
Unknown
PDP1
jain_10_ASD_discovery_cases-case1
De novo
Likely simplex
Likely segregated
RBM12B-AS1,MYL12AP1,MIR378D2,PSMA2P2,RPL34P18,RPS4XP10,RNU6-1209P,MIR3150BHG,MIR3150B,MIR3150A,RBM12B,TMEM67,PDP1,CDH17,GEM,RAD54B,FSBP,ESRP1,INTS8,TP53INP1,PLEKHF2,LINC01298,C8orf37,FAM92A,VIRMA,DPY19L4,CCNE2,NDUFAF6,C8orf37-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004038
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPS4XP10,RAD54B,FSBP,ESRP1,INTS8,TP53INP1,VIRMA,DPY19L4,CCNE2,NDUFAF6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004736
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
UQCRB,RNU6-1172P,TSPYL5,GDF6,MTERF3,PTDSS1,SDC2,CPQ
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005342
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IRF5P1,MIR8084,RNA5SP274,ZNF317P1,RBM12B-AS1,MYL12AP1,MIR378D2,PSMA2P2,RPL34P18,RPS4XP10,RNU6-1209P,MIR3150BHG,MIR3150B,MIR3150A,RNU6-690P,UQCRB,RNU6-1172P,TSPYL5,SNORD3H,C8orf87,RBM12B,TMEM67,PDP1,CDH17,GEM,RAD54B,FSBP,ESRP1,INTS8,TP53INP1,PLEKHF2,LINC01298,C8orf37,GDF6,MTERF3,PTDSS1,FLJ46284,TRIQK,FAM92A,VIRMA,DPY19L4,CCNE2,NDUFAF6,SDC2,CPQ,MTDH,LAPTM4B,LINC00535,C8orf37-AS1
krumm_15_ASD_discovery_cases-case12930.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
MTDH,LAPTM4B
krumm_15_ASD_discovery_cases-case12932.p1
1M-Duov3
Maternal
Simplex
Segregated
MTDH,LAPTM4B
krumm_15_ASD_discovery_cases-case13104.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MTDH,LAPTM4B
leblond_19_ASD_discovery_cases-casePN400528
Unknown
Simplex
Unknown
LAPTM4B
poultney_13_ASD_discovery_cases-case04HI3269A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
LAPTM4B
poultney_13_ASD_discovery_cases-case04HI3426A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
LAPTM4B
poultney_13_ASD_discovery_cases-case98HI0489B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU6-1209P,MIR3150BHG,MIR3150B,MIR3150A,INTS8,TP53INP1,PLEKHF2,LINC01298,C8orf37,CCNE2,NDUFAF6,C8orf37-AS1
prasad_12_ASD_discovery_cases-case72816L
Unknown
Multiplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-caseMM0234-5
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11073.p1
Paternal
Simplex (quad-proband matched)
Segregated
MIR3150BHG,MIR3150B,MIR3150A,NDUFAF6
sanders_11_ASD_discovery_cases-11108.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11484.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11510.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11587.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12057.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12117.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3150BHG,NDUFAF6
sanders_11_ASD_discovery_cases-12118.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CPQ
sanders_11_ASD_discovery_cases-12366.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13031.p1
Unknown
Simplex (trio)
NA
CPQ
sanders_11_ASD_discovery_cases-13222.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00535
soueid_16_ASD_discovery_cases-caseBAK42
Maternal
Simplex
UQCRB,GDF6,MTERF3,PTDSS1
wintle_10_ASD_discovery_cases-AN10949
Unknown
Unknown
Unknown
CDH17
yin_16_ASD_discovery_cases-case325
Unknown
Unknown
Unknown
VIRMA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036020865_
Unknown
MIR8084,RNA5SP274,ZNF317P1,RBM12B-AS1,MYL12AP1,MIR378D2,C8orf87,RBM12B,TMEM67,PDP1,TRIQK,FAM92A,LINC00535
engchuan_15_ASD_discovery_controls-controlB986059_1007872554
Unknown
C8orf37-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900105_900105
Unknown
RNU6-1172P,SDC2
engchuan_15_ASD_discovery_controls-controlHABC_900997_900997
Unknown
MIR378D2,PSMA2P2,RPL34P18,PDP1,CDH17
engchuan_15_ASD_discovery_controls-controlHABC_901147_901147
Unknown
krumm_15_ASD_discovery_controls-control12308.s1
Illumina 1MDuo
Maternal
SUMO2P18,RPS23P1,LAPTM4B,MATN2
nord_11_ASD_discovery_controls-04C27523
0 genes
poultney_13_ASD_discovery_controls-control04C26931A
Unknown
LAPTM4B
poultney_13_ASD_discovery_controls-control04C28500A
Unknown
LAPTM4B
poultney_13_ASD_discovery_controls-control04C36026A
Unknown
LAPTM4B
poultney_13_ASD_discovery_controls-control05C41190A
Unknown
LAPTM4B
poultney_13_ASD_discovery_controls-control05C42426A
Unknown
LAPTM4B
sanders_11_ASD_discovery_controls-11484.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11510.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11587.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11918.s1
Maternal
Simplex (quad)
NA
MIR3150BHG,NDUFAF6
sanders_11_ASD_discovery_controls-11918.s1
Unknown
Simplex (quad)
NA
VIRMA
sanders_11_ASD_discovery_controls-12057.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12118.s1
Unknown
Simplex (quad)
NA
CPQ
sanders_11_ASD_discovery_controls-12231.s1
Paternal
Simplex (quad)
NA
CPQ
sanders_11_ASD_discovery_controls-12335.s1
Unknown
Simplex (quad)
NA
RAD54B,FSBP
sanders_11_ASD_discovery_controls-12424.s1
Unknown
Simplex (quad)
NA
CPQ
No Animal Model Data Available