7q11.21CNV Type: Deletion-Duplication
Largest CNV size: 1810393 bp
Statistics Box:
Number of Reports: 21
Number of Reports: 21
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
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.
Deletion
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.
Deletion
Global increases in both common and rare copy number load associated with autism.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
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.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
473068
19
3
22
fan_18_DD/ID_discovery_cases
Individuals from unrelated families presenting with de novo 14q32.2 deletions affecting the CCNK gene
3
All three cases presented with severe to extremely severe developmental delay/intellectual disability (DD/ID) with profounds delays in language and social communication; two cases also presented with autistic behaviors
Range, 4-9 yrs.
33.33% Male
19778
0
2
2
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
1121138
5
1
6
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
545643
3
2
5
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
863209
1
2
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
126442
1
1
2
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
549290
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
627331
2
0
2
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
379000
1
0
1
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)
184800
1
0
1
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
130190
1
0
1
mosrati_12_ASD/MR_discovery_cases
Affected siblings from a consanguineous Tunisian family with moderate to profound congenital hearing loss associated with mental retardation and autistic behavior.
3
Congenital hearing loss (3/3), mental retardation (2/3), and autistic traits (2/3)
Range, 22-31 yrs.
66.67% Male
148253
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
526000
1
0
1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
193698
0
1
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
357713
2
1
3
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)
883254
0
4
4
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
318270
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
276621
3
1
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
1810393
13
14
27
woodbury-smith_14_ASD_discovery_cases
Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
19
Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
N/A
N/A
21629
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
43374
0
2
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
617711
20
12
32
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
1121138
0
0
0
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
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
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
401804
5
4
9
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
10033
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
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.
21933
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)
883254
1
1
2
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
511826
8
13
21
woodbury-smith_14_ASD_discovery_controls
Platform-matched controls from the KORA and COGEND datasets
2988
Control
N/A
N/A
N/A
N/A
N/A
N/A
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
43374
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fan_18_DD/ID_discovery_cases
Chinese
Array SNP, solid phase hybridization
Affymetrix CytoScan HD, Illumina HumanCytoSNP-12
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
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)
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
mosrati_12_ASD/MR_discovery_cases
Tunisian
Solid phase hybridization
Illumina HumanCyto12v2.0 BeadChip
QuantiSNP, PennCNV, VanillaICE
BeadStudio V3.3
None
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
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
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
woodbury-smith_14_ASD_discovery_cases
US and Canada
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
None
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
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
woodbury-smith_14_ASD_discovery_controls
Predominantly European
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_cases-case1030_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65491268
272086
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13076_903
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65505573
286391
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13179_1963
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65352106
132924
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1395_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65572360
353178
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14047_820
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65687664
468482
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14103_1780
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65687664
468482
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14170_2760
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65953368
66001578
48211
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14215_3460
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65547470
328288
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14234_1920
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65687664
468482
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16056_1571011001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65624739
405557
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20110_1510001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65491614
272432
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20164_1684001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65970367
66001578
31212
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21047_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65491268
272086
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3456_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65177617
65624739
447123
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3478_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65491268
272086
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4326_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65687664
468482
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4390_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65687664
468482
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4394_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
64580032
64625850
45819
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4510_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65616329
397147
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5006_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66666117
66718520
52404
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5142_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65491268
272086
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8567_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65219183
65628112
408930
GRCh38
Deletion
No
fan_18_DD/ID_discovery_cases-subject2
9 yrs.
F
Developmental delay/intellectual disability
Developmental milestones: extremely severe delays in gross motor skill development, fine motor skill development, language development, social communication development, and adaptivity. Language and communication evaluation: unable to make sentences, language ability equivalent to 18 months. Behavioral/psychiatric evaluation: no autistic behaviors reported. Dysmorphic features: hypertelorism, thin eyebrows, dysmorphic ears, high anterior hairline, palpebral fissures, broad nasal bridge and tip, thick nasal alae, long philtrum, thin upper lip vermillion, narrow jaw. Growth parameters: overgrowth (height and weight both > 97th %ile), macrocephaly (head circumference +2 SD ~ +3 SD).
Extremely severe intellectual disability
62824140
62843917
19778
GRCh38
Triplication
No
girirajan_11_ASD_discovery_cases-Si197
15
M
Autism
ADOS score: 9. Vineland composite score: 57.
Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 35; Non-verbal IQ, 34.
65187706
65487799
300094
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si223
19
F
Autism
ADOS score: NA. Vineland composite score: 59.
No mental retardation/intellectual disability. Full-scale IQ, 120; Verbal IQ, 121; Non-verbal IQ, 125.
62507877
63258084
750208
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si323
15
M
Autism
ADOS score: 10. Vineland composite score: 56.
Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 36; Non-verbal IQ, 61.
63971823
65092961
1121139
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si323
15
M
Autism
ADOS score: 10. Vineland composite score: 56.
Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 36; Non-verbal IQ, 61.
65187706
65477445
289740
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si84
14
M
Autism
ADOS score: 8. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 53; Non-verbal IQ, 67.
65231671
65487799
256129
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si92
6
M
Autism
ADOS score: 4. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 98; Non-verbal IQ, 123.
65187706
65487799
300094
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-19804100154
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
62678640
63190216
511577
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-20604100546
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
62678640
63224283
545644
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-9005102681
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
65187706
65487799
300094
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9805103469
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
65201300
65487799
286500
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9908109393
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
N/A
65231671
65411549
179879
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000349
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
62570287
63230552
660266
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004204
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
65906534
66769743
863210
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005369
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
65231558
65401160
169603
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11812.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
66086584
66114914
28331
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13796.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
66114828
66241270
126443
GRCh38
Deletion
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case8
17 yrs.
M
Intellectual disability
Mild intellectual disability
65152501
65697196
544696
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11549.p1
NA
M
ASD
NA
NA
63833994
64210981
376988
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11549.p1
NA
M
ASD
NA
NA
64382003
65009333
627331
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case113
3 yrs.
M
ASD and developmental delay
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: motor delay, language delay. Language and communication evaluation: no language disorder or absent speech. Musculoskeletal evaluation: pes planus, single palmar crease. Behavioral/psychiatric evaluation: ASD. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: skin softness/joint laxity. Dysmorphic features: anteverted nares, posteriorly rotated ears with thick helices and uplifted lobes. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
Not reported
65231558
65606006
374449
GRCh38
Deletion
No
morrow_08_ASD_discovery_cases-case5606
NA
ASD
NA
NA
64172000
64357000
184800
Unknown
Deletion
No
mosca_16_DCD_discovery_cases-case107403
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
67251628
67381817
130190
GRCh38
Deletion
No
mosrati_12_ASD/MR_discovery_cases-caseV6
22 yrs.
F
Mental retardation
Behavioral and psychiatric evaluation: no autistic traits. Visual and auditory evaluation: moderate hearing loss. Family history: consanguineous parents; two brothers with autistic traits and hearing loss (one brother with additional diagnosis of mental retardation).
Moderate mental retardation (MR)
61869706
62017959
148253
Unknown
Deletion
No
nava_13_ASD_discovery_cases-Fam1244Proband10882
N/A
M
ASD
Additional clinical profile info N/A
ID
65105631
65627403
521773
GRCh38
Deletion
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
N/A
M
ASD and intellectual disability
Case met diagnostic criteria for ASD with both ADOS and ADI scores falling into the autism spectrum range. Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: normal motor development; delay in expressive language. Behavioral/psychiatric evaluation: anxiety; OCD; attention deficit disorder (ADD). Family history: mother suffers from major depression, psoriasis, and eating disorder; father's family includes one case of intellectual disability, a paternal grandmother affected by depression and autoimmune thyroiditis, and a paternal uncle diagnosed with OCD.
Mild intellectual disability (TIQ score of 64); memory impairment
63000287
63193985
193699
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case1030_3
NA
M
ASD
NA
NA
65219183
65491268
272086
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case1395_301
NA
M
ASD
NA
NA
65219183
65572360
353178
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5115_3
NA
M
ASD
NA
NA
62243015
62528934
285920
Unknown
Duplication
Yes
poultney_13_ASD_discovery_cases-case04HI2957A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
64521159
65399877
878719
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3571A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1272302; NDAR ID NDAR_INVPG937HCT)
64706322
65399877
693556
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0922A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
64521159
65399877
878719
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0933A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU017305; NDAR ID N/A)
64521159
65399877
878719
GRCh38
Duplication
No
rosenfeld_10_ASD_discovery_cases-case29493
NA
NA
ASD
NA
NA
64247063
64565333
318270
Unknown
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1033-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
65219183
65491268
272086
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1536-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
65219183
65491268
272086
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-120
N/A
N/A
CBLH-PMG
Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
64679085
64778319
99235
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-095
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
65219183
65491268
272086
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
65777729
65825628
47900
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11046.p1
6.6
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 62
65525893
65875989
350097
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11071.p1
13.9
F
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
65207247
65606620
399374
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11090.p1
11.7
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
65219183
65478704
259522
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11206.p1
6.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
65209702
65724330
514629
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11277.p1
10.2
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
63795338
63824477
29140
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11290.p1
11.3
M
ASD
NA
Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 115
65799093
65803528
4436
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11345.p1
6.1
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 120; verbal IQ, 100
65219183
65491268
272086
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11350.p1
9.1
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 92; verbal IQ, 93
64594426
64658284
63859
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11379.p1
5.8
F
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 65; verbal IQ, 78
64438051
64443675
5625
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11393.p1
8.2
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 37; verbal IQ, 17
65950660
66001578
50919
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11413.p1
13.4
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 104; verbal IQ, 102
65219183
65654623
435441
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11414.p1
12.7
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 83; verbal IQ, 80
65161286
65616329
455044
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
64873788
65046526
172739
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11549.p1
12.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
63670682
65476540
1805859
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11572.p1
9.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 83; verbal IQ, 93
64519855
64529722
9868
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11659.p1
6.4
F
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 89; verbal IQ, 94
65219183
65487461
268279
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11768.p1
8.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 89
65783007
65803528
20522
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11775.p1
9.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
64250909
64303369
52461
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11800.p1
13.3
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
65219183
65656147
436965
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12361.p1
4.8
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 98
65219183
65491614
272432
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12407.p1
9.4
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 86; verbal IQ, 41
65799093
65803528
4436
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12674.p1
6.5
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 86
65219183
65693106
473924
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12907.p1
13.8
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 116; verbal IQ, 108
65219183
65662506
443324
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12916.p1
7.6
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 78; verbal IQ, 97
65219183
65491614
272432
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13015.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
65219183
65491614
272432
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13065.p1
5.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
65219183
65618669
399487
GRCh38
Deletion
No
woodbury-smith_14_ASD_discovery_cases-case20
N/A
N/A
ASD
Family history: N/A
65960686
65982314
21629
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case268
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
65949077
65992450
43374
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case269
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
65949077
65992450
43374
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-control110036019446_
N/A
N/A
Control
No previous psychiatric history
65219183
65687664
468482
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB350610_1007873740
N/A
N/A
Control
No previous psychiatric history
65161286
65623894
462609
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB366713_1007844576
N/A
N/A
Control
No previous psychiatric history
65219183
65654623
435441
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB388370_1007853742
N/A
N/A
Control
No previous psychiatric history
65193271
65491268
297998
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB438744_1007854063
N/A
N/A
Control
No previous psychiatric history
66944894
67513520
568627
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB611425_1007873622
N/A
N/A
Control
No previous psychiatric history
64051609
64312329
260721
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB667500_1007874677
N/A
N/A
Control
No previous psychiatric history
65193271
65491268
297998
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB695562_0067942649
N/A
N/A
Control
No previous psychiatric history
65127126
65669782
542657
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB815730_1007875180
N/A
N/A
Control
No previous psychiatric history
65122471
65676147
553677
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB904265_1007873471
N/A
N/A
Control
No previous psychiatric history
63967672
64342362
374691
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB958877_1007854053
N/A
N/A
Control
No previous psychiatric history
65698984
65866014
167031
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB974175_1007875270
N/A
N/A
Control
No previous psychiatric history
65193271
65491268
297998
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB982645_1007875825
N/A
N/A
Control
No previous psychiatric history
65219183
65598361
379179
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900062_900062
N/A
N/A
Control
No previous psychiatric history
65155972
65628112
472141
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900065_900065
N/A
N/A
Control
No previous psychiatric history
65155972
65628112
472141
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900073_900073
N/A
N/A
Control
No previous psychiatric history
65219183
65355417
136235
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900073_900073
N/A
N/A
Control
No previous psychiatric history
64905740
65001948
96209
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900181_900181
N/A
N/A
Control
No previous psychiatric history
65193271
65491614
298344
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900326_900326
N/A
N/A
Control
No previous psychiatric history
65166004
65491614
325611
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900569_900569
N/A
N/A
Control
No previous psychiatric history
66405439
66633495
228057
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900780_900780
N/A
N/A
Control
No previous psychiatric history
65219183
65624739
405557
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900920_900920
N/A
N/A
Control
No previous psychiatric history
65111214
65724330
613117
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900941_900941
N/A
N/A
Control
No previous psychiatric history
63991171
64452920
461750
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901029_901029
N/A
N/A
Control
No previous psychiatric history
65219874
65459507
239634
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901034_901034
N/A
N/A
Control
No previous psychiatric history
65207247
65491614
284368
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901071_901071
N/A
N/A
Control
No previous psychiatric history
65219183
65628112
408930
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901093_901093
N/A
N/A
Control
No previous psychiatric history
64511352
64544498
33147
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901167_901167
N/A
N/A
Control
No previous psychiatric history
65111214
65687664
576451
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901214_901214
N/A
N/A
Control
No previous psychiatric history
65219874
65624739
404866
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902660_902660
N/A
N/A
Control
No previous psychiatric history
65219183
65628112
408930
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902784_902784
N/A
N/A
Control
No previous psychiatric history
65297465
65430441
132977
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902835_902835
N/A
N/A
Control
No previous psychiatric history
65207247
65533060
325814
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1039
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
61994170
62159171
165002
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1137
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
62035570
62047108
11539
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1424
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
64679561
64956181
276621
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split2119
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
62035570
62047108
11539
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split409
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
65825257
65891461
66205
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split568
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
62203031
62311193
108163
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split594
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
63726645
64128448
401804
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split855
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
62035570
62047108
11539
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split867
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
61852895
62159171
306277
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control11812.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
66082879
66092912
10034
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C27162
Control
63560193
63582125
21933
Unknown
Deletion
poultney_13_ASD_discovery_controls-control05C43347
N/A
F
Control
NIMH Control (NIMH ID 27459)
64521159
65399877
878719
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C43912
N/A
M
Control
NIMH Control (NIMH ID 64417)
67014365
67117620
103256
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
65783007
65825628
42622
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11048.s1
8.1
M
Control (matched sibling)
NA
NA
65207247
65541485
334239
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11071.s1
20
F
Control (matched sibling)
NA
NA
65207247
65491268
284022
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11161.s1
9.3
F
Control (matched sibling)
NA
NA
65972107
65996954
24848
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11245.s1
14.1
M
Control (matched sibling)
NA
NA
65799093
65803528
4436
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11301.s1
7.2
F
Control (matched sibling)
NA
NA
65139534
65646824
507291
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11339.s1
11.2
M
Control (matched sibling)
NA
NA
64076795
64336878
260084
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11345.s1
8
M
Control (matched sibling)
NA
NA
65122471
65606620
484150
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11350.s1
6.1
M
Control (matched sibling)
NA
NA
64594426
64644881
50456
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11391.s1
18.1
M
Control (matched sibling)
NA
NA
64512838
64526082
13245
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11393.s1
9.1
M
Control (matched sibling)
NA
NA
65950660
66001578
50919
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11540.s1
14.7
F
Control (matched sibling)
NA
NA
65783007
65825628
42622
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11581.s1
6.8
M
Control (matched sibling)
NA
NA
64870745
65081208
210464
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11659.s1
4.8
F
Control (matched sibling)
NA
NA
65219183
65487461
268279
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11768.s1
7
F
Control (matched sibling)
NA
NA
65799093
65803528
4436
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11872.s1
6
F
Control (matched sibling)
NA
NA
66850989
66862667
11679
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12272.s1
9.8
F
Control (matched sibling)
NA
NA
65219183
65628112
408930
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12573.s1
11.7
M
Control (matched sibling)
NA
NA
65177617
65616329
438713
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
65219183
65618669
399487
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12907.s1
9.8
F
Control (matched sibling)
NA
NA
65219183
65491614
272432
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
65219970
65491614
271645
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case1030_3
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_cases-case13076_903
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_cases-case13179_1963
Unknown
RSL24D1P3,INTS4P1
engchuan_15_ASD_discovery_cases-case1395_301
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_cases-case14047_820
Unknown
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
engchuan_15_ASD_discovery_cases-case14103_1780
Unknown
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
engchuan_15_ASD_discovery_cases-case14170_2760
Unknown
GUSB,VKORC1L1
engchuan_15_ASD_discovery_cases-case14215_3460
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_cases-case14234_1920
Unknown
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
engchuan_15_ASD_discovery_cases-case16056_1571011001
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_cases-case20110_1510001
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_cases-case20164_1684001
Unknown
GUSB
engchuan_15_ASD_discovery_cases-case21047_1
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_cases-case3456_3
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_cases-case3478_3
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_cases-case4326_1
Unknown
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
engchuan_15_ASD_discovery_cases-case4390_1
Unknown
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
engchuan_15_ASD_discovery_cases-case4394_1
Unknown
engchuan_15_ASD_discovery_cases-case4510_1
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_cases-case5006_3
Unknown
RABGEF1
engchuan_15_ASD_discovery_cases-case5142_4
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_cases-case8567_201
Unknown
RSL24D1P3,ZNF92,INTS4P1
fan_18_DD/ID_discovery_cases-subject2
Unknown
Unknown
girirajan_11_ASD_discovery_cases-Si197
Unknown
Simplex
RSL24D1P3,ZNF92,INTS4P1
girirajan_11_ASD_discovery_cases-Si223
Unknown
Simplex
RNU6-417P,ZNF90P3,SAPCD2P4,PHKG1P1,SEPT14P1,SEPT7P4
girirajan_11_ASD_discovery_cases-Si323
Unknown
Simplex
TRIM60P17,MTND4P2,MTND4LP2,MTND3P2,MTCO3P8,MTATP6P18,MTCO2P8,MTCO1P8,MTND1P2,VN1R37P,VN1R38P,SAPCD2P1,TRIM60P18,YWHAEP1,VN1R40P,ZNF680P1,HNRNPCP7,BNIP3P42,MIR6839,SEPHS1P1,VN1R42P,MTDHP1,RNU6-1229P,SNORA22C,SNORA15B-1,LINC01005,ZNF727,GUSBP6,MTND2P4,ZNF735,ZNF679,ZNF736,ZNF680,ZNF107,BNIP3P11,ZNF138,EEF1DP4,ZNF117,ERV3-1,CCT6P3,GTF2IP14,ZNF273
girirajan_11_ASD_discovery_cases-Si323
Unknown
Simplex
RSL24D1P3,ZNF92,INTS4P1
girirajan_11_ASD_discovery_cases-Si84
Unknown
Simplex
RSL24D1P3,ZNF92,INTS4P1
girirajan_11_ASD_discovery_cases-Si92
Unknown
Simplex
RSL24D1P3,ZNF92,INTS4P1
girirajan_13b_ASD_discovery_cases-19804100154
Unknown
Unknown
Unknown
RNU6-417P,ZNF90P3,SAPCD2P4,SEPT14P1
girirajan_13b_ASD_discovery_cases-20604100546
Unknown
Unknown
Unknown
RNU6-417P,ZNF90P3,SAPCD2P4,SEPT14P1
girirajan_13b_ASD_discovery_cases-9005102681
Unknown
Unknown
Unknown
RSL24D1P3,ZNF92,INTS4P1
girirajan_13b_ASD_discovery_cases-9805103469
Unknown
Unknown
Unknown
RSL24D1P3,ZNF92,INTS4P1
girirajan_13b_ASD_discovery_cases-9908109393
Unknown
Unknown
Unknown
RSL24D1P3,ZNF92,INTS4P1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000349
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-417P,ZNF90P3,SAPCD2P4,SEPT14P1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004204
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-313P,GTF2IP9,SKP1P1,GS1-124K5.4,SAPCD2P3,RPL35P5,GUSB,ASL,CRCP,KCTD7,VKORC1L1,TPST1,LINC00174,RABGEF1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005369
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RSL24D1P3,ZNF92,INTS4P1
krumm_15_ASD_discovery_cases-case11812.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ASL,CRCP
krumm_15_ASD_discovery_cases-case13796.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
CRCP,TPST1
lee_17_ASD/DD/ID/MCA_discovery_cases-case8
Unknown
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
levy_11_ASD_discovery_cases-11549.p1
Paternal
Simplex
Segregated
GABPAP,NMD3P1,SLC25A1P3,VN1R34P,ARAFP1,VN1R35P,VN1R36P,TRIM60P17,MTND4P2,MTND4LP2,MTND3P2,MTCO3P8,MTATP6P18,MTCO2P8,MTCO1P8,MTND1P2,VN1R37P,VN1R38P,SAPCD2P1,LINC01005,ZNF727,GUSBP6,MTND2P4,ZNF735
levy_11_ASD_discovery_cases-11549.p1
Paternal
Simplex
Segregated
YWHAEP1,VN1R40P,ZNF680P1,HNRNPCP7,BNIP3P42,MIR6839,SEPHS1P1,VN1R42P,MTDHP1,ZNF680,ZNF107,BNIP3P11,ZNF138,EEF1DP4,ZNF117,ERV3-1,ZNF273
maini_18_ASD/DD/ID_discovery_cases-case113
Unknown
Simplex
Unknown
RSL24D1P3,ZNF92,INTS4P1
morrow_08_ASD_discovery_cases-case5606
Paternal
NA
NA
ZNF92
mosca_16_DCD_discovery_cases-case107403
Unknown
Unknown
Unknown
SPDYE21P,PMS2P4,STAG3L4
mosrati_12_ASD/MR_discovery_cases-caseV6
Unknown
Multiplex
Unknown
0 genes
nava_13_ASD_discovery_cases-Fam1244Proband10882
Maternal
Simplex
Unknown
RSL24D1P3,ZNF92,INTS4P1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
Maternal
Multi-generational
Unknown
RNU6-417P,ZNF90P3,SAPCD2P4,SEPT14P1
pinto_10_ASD_discovery_cases-case1030_3
Affy5.0
paternal
NA
NA
RSL24D1P3,ZNF92,INTS4P1
pinto_10_ASD_discovery_cases-case1395_301
Illumina550;Affy5.0
Unknown
NA
NA
RSL24D1P3,ZNF92,INTS4P1
pinto_10_ASD_discovery_cases-case5115_3
Agilent1M
paternal
NA
NA
LOC643955
poultney_13_ASD_discovery_cases-case04HI2957A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
BNIP3P42,MIR6839,SEPHS1P1,VN1R42P,MTDHP1,RNU6-1229P,SNORA22C,SNORA15B-1,RSL24D1P3,ZNF680,ZNF107,BNIP3P11,ZNF138,EEF1DP4,ZNF117,ERV3-1,CCT6P3,GTF2IP14,ZNF92,ZNF273,INTS4P1
poultney_13_ASD_discovery_cases-case05HI3571A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SEPHS1P1,VN1R42P,MTDHP1,RNU6-1229P,SNORA22C,SNORA15B-1,RSL24D1P3,ZNF107,ZNF138,EEF1DP4,ZNF117,ERV3-1,CCT6P3,GTF2IP14,ZNF92,ZNF273,INTS4P1
poultney_13_ASD_discovery_cases-case99HI0922A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
BNIP3P42,MIR6839,SEPHS1P1,VN1R42P,MTDHP1,RNU6-1229P,SNORA22C,SNORA15B-1,RSL24D1P3,ZNF680,ZNF107,BNIP3P11,ZNF138,EEF1DP4,ZNF117,ERV3-1,CCT6P3,GTF2IP14,ZNF92,ZNF273,INTS4P1
poultney_13_ASD_discovery_cases-case99HI0933A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
BNIP3P42,MIR6839,SEPHS1P1,VN1R42P,MTDHP1,RNU6-1229P,SNORA22C,SNORA15B-1,RSL24D1P3,ZNF680,ZNF107,BNIP3P11,ZNF138,EEF1DP4,ZNF117,ERV3-1,CCT6P3,GTF2IP14,ZNF92,ZNF273,INTS4P1
rosenfeld_10_ASD_discovery_cases-case29493
FISH
Maternal
Unknown
Unknown
ZNF92
sajan_13_ACC/CBLH/PMG_discovery_cases-case1033-0
Not tested by qPCR
Unknown
Unknown
Unknown
RSL24D1P3,ZNF92,INTS4P1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1536-0
Not tested by qPCR
Unknown
Unknown
Unknown
RSL24D1P3,ZNF92,INTS4P1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-120
Not tested by qPCR
Unknown
Unknown
Unknown
MIR6839,ZNF107,BNIP3P11
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-095
Not tested by qPCR
Unknown
Unknown
Unknown
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_cases-11033.p1
Paternal
Simplex (quad-proband matched)
Segregated
RNU6-912P,GTF2IP5
sanders_11_ASD_discovery_cases-11046.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CCT6P1,SNORA22,SNORA15B-2,RNU6-912P,RNU6-973P,INTS4P2,GTF2IP5,VKORC1L1
sanders_11_ASD_discovery_cases-11071.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_cases-11090.p1
Paternal
Simplex (quad-proband matched)
Segregated
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_cases-11206.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
sanders_11_ASD_discovery_cases-11277.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11290.p1
Both parents
Simplex (quad-proband matched)
Not segregated
GTF2IP5
sanders_11_ASD_discovery_cases-11345.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_cases-11350.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11379.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11393.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GUSB,VKORC1L1
sanders_11_ASD_discovery_cases-11413.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
sanders_11_ASD_discovery_cases-11414.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_cases-11456.p1
Maternal
Simplex (quad-proband matched)
Not segregated
VN1R42P,MTDHP1,RNU6-1229P,ZNF117,ERV3-1,CCT6P3,ZNF273
sanders_11_ASD_discovery_cases-11549.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CICP24,GABPAP,NMD3P1,SLC25A1P3,VN1R34P,ARAFP1,VN1R35P,VN1R36P,TRIM60P17,MTND4P2,MTND4LP2,MTND3P2,MTCO3P8,MTATP6P18,MTCO2P8,MTCO1P8,MTND1P2,VN1R37P,VN1R38P,SAPCD2P1,TRIM60P18,YWHAEP1,VN1R40P,ZNF680P1,HNRNPCP7,BNIP3P42,MIR6839,SEPHS1P1,VN1R42P,MTDHP1,RNU6-1229P,SNORA22C,SNORA15B-1,RSL24D1P3,LINC01005,ZNF727,GUSBP6,MTND2P4,ZNF735,ZNF679,ZNF736,ZNF680,ZNF107,BNIP3P11,ZNF138,EEF1DP4,ZNF117,ERV3-1,CCT6P3,GTF2IP14,ZNF92,ZNF273,INTS4P1
sanders_11_ASD_discovery_cases-11572.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF680
sanders_11_ASD_discovery_cases-11659.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_cases-11768.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GTF2IP5
sanders_11_ASD_discovery_cases-11775.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF679
sanders_11_ASD_discovery_cases-11800.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
sanders_11_ASD_discovery_cases-12361.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_cases-12407.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GTF2IP5
sanders_11_ASD_discovery_cases-12674.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
sanders_11_ASD_discovery_cases-12907.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
sanders_11_ASD_discovery_cases-12916.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_cases-13015.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_cases-13065.p1
Maternal
Simplex (trio)
NA
RSL24D1P3,ZNF92,INTS4P1
woodbury-smith_14_ASD_discovery_cases-case20
Unknown
Extended multiplex
Unknown
GUSB
yin_16_ASD_discovery_cases-case268
Unknown
Unknown
Unknown
GUSB,VKORC1L1
yin_16_ASD_discovery_cases-case269
Unknown
Unknown
Unknown
GUSB,VKORC1L1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036019446_
Unknown
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
engchuan_15_ASD_discovery_controls-controlB350610_1007873740
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_controls-controlB366713_1007844576
Unknown
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
engchuan_15_ASD_discovery_controls-controlB388370_1007853742
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_controls-controlB438744_1007854063
Unknown
RN7SL43P,MIR4650-1,SPDYE21P,PMS2P4,TMEM248,SBDS,STAG3L4,TYW1
engchuan_15_ASD_discovery_controls-controlB611425_1007873622
Unknown
TRIM60P17,MTND4P2,MTND4LP2,MTND3P2,MTCO3P8,MTATP6P18,MTCO2P8,MTCO1P8,MTND1P2,VN1R37P,VN1R38P,SAPCD2P1,ZNF727,GUSBP6,MTND2P4,ZNF735,ZNF679,ZNF736
engchuan_15_ASD_discovery_controls-controlB667500_1007874677
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_controls-controlB695562_0067942649
Unknown
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
engchuan_15_ASD_discovery_controls-controlB815730_1007875180
Unknown
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
engchuan_15_ASD_discovery_controls-controlB904265_1007873471
Unknown
TRIM60P17,MTND4P2,MTND4LP2,MTND3P2,MTCO3P8,MTATP6P18,MTCO2P8,MTCO1P8,MTND1P2,VN1R37P,VN1R38P,SAPCD2P1,LINC01005,ZNF727,GUSBP6,MTND2P4,ZNF735,ZNF679,ZNF736
engchuan_15_ASD_discovery_controls-controlB958877_1007854053
Unknown
CCT6P1,SNORA22,SNORA15B-2,RNU6-912P,RNU6-973P,INTS4P2,GTF2IP5
engchuan_15_ASD_discovery_controls-controlB974175_1007875270
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_controls-controlB982645_1007875825
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_controls-controlHABC_900062_900062
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_controls-controlHABC_900065_900065
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_controls-controlHABC_900073_900073
Unknown
RSL24D1P3,INTS4P1
engchuan_15_ASD_discovery_controls-controlHABC_900073_900073
Unknown
VN1R42P,MTDHP1,ZNF117,ERV3-1,ZNF273
engchuan_15_ASD_discovery_controls-controlHABC_900181_900181
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_controls-controlHABC_900326_900326
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_controls-controlHABC_900569_900569
Unknown
GTF2IP9,SKP1P1,GS1-124K5.4,SAPCD2P3,RPL35P5,KCTD7,TPST1,LINC00174
engchuan_15_ASD_discovery_controls-controlHABC_900780_900780
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_controls-controlHABC_900920_900920
Unknown
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
engchuan_15_ASD_discovery_controls-controlHABC_900941_900941
Unknown
TRIM60P17,MTND4P2,MTND4LP2,MTND3P2,MTCO3P8,MTATP6P18,MTCO2P8,MTCO1P8,MTND1P2,VN1R37P,VN1R38P,SAPCD2P1,TRIM60P18,YWHAEP1,VN1R40P,LINC01005,ZNF727,GUSBP6,MTND2P4,ZNF735,ZNF679,ZNF736
engchuan_15_ASD_discovery_controls-controlHABC_901029_901029
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_controls-controlHABC_901034_901034
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_controls-controlHABC_901071_901071
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_controls-controlHABC_901093_901093
Unknown
ZNF680
engchuan_15_ASD_discovery_controls-controlHABC_901167_901167
Unknown
RSL24D1P3,ZNF92,INTS4P1,INTS4P2
engchuan_15_ASD_discovery_controls-controlHABC_901214_901214
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_controls-controlHABC_902660_902660
Unknown
RSL24D1P3,ZNF92,INTS4P1
engchuan_15_ASD_discovery_controls-controlHABC_902784_902784
Unknown
RSL24D1P3,ZNF92
engchuan_15_ASD_discovery_controls-controlHABC_902835_902835
Unknown
RSL24D1P3,ZNF92,INTS4P1
kanduri_15_ASD_discovery_controls-control_split1039
Unknown
Intergenic CNV: nearest genes, ZNF733P(dist=592499)
kanduri_15_ASD_discovery_controls-control_split1137
Unknown
Intergenic CNV: nearest genes,ZNF733P(dist=704562)
kanduri_15_ASD_discovery_controls-control_split1424
Unknown
ZNF92
kanduri_15_ASD_discovery_controls-control_split2119
Unknown
Intergenic CNV: nearest genes, ZNF733P(dist=704562)
kanduri_15_ASD_discovery_controls-control_split409
Unknown
LINC00174 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_controls-control_split568
Unknown
Intergenic CNV: nearest genes, ZNF733P(dist=440477)
kanduri_15_ASD_discovery_controls-control_split594
Unknown
ZNF107,ZNF679,ZNF680,ZNF736
kanduri_15_ASD_discovery_controls-control_split855
Unknown
Intergenic CNV: nearest genes, ZNF733P(dist=704562)
kanduri_15_ASD_discovery_controls-control_split867
Unknown
Intergenic CNV: nearest genes, ZNF733P(dist=592499)
krumm_15_ASD_discovery_controls-control11812.s1
Illumina 1MDuo
Maternal
ASL
nord_11_ASD_discovery_controls-04C27162
0 genes
poultney_13_ASD_discovery_controls-control05C43347
Unknown
BNIP3P42,MIR6839,SEPHS1P1,VN1R42P,MTDHP1,RNU6-1229P,SNORA22C,SNORA15B-1,RSL24D1P3,ZNF680,ZNF107,BNIP3P11,ZNF138,EEF1DP4,ZNF117,ERV3-1,CCT6P3,GTF2IP14,ZNF92,ZNF273,INTS4P1
poultney_13_ASD_discovery_controls-control05C43912
Unknown
MIR4650-1,TYW1
sanders_11_ASD_discovery_controls-11041.s1
Both parents
Simplex (quad)
NA
RNU6-912P,GTF2IP5
sanders_11_ASD_discovery_controls-11048.s1
Maternal
Simplex (quad)
NA
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_controls-11071.s1
Maternal
Simplex (quad)
NA
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_controls-11161.s1
Maternal
Simplex (quad)
NA
GUSB
sanders_11_ASD_discovery_controls-11245.s1
Both parents
Simplex (quad)
NA
GTF2IP5
sanders_11_ASD_discovery_controls-11301.s1
Paternal
Simplex (quad)
NA
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_controls-11339.s1
Paternal
Simplex (quad)
NA
TRIM60P17,MTND4P2,MTND4LP2,MTND3P2,MTCO3P8,MTATP6P18,MTCO2P8,MTCO1P8,MTND1P2,VN1R37P,VN1R38P,SAPCD2P1,ZNF727,GUSBP6,MTND2P4,ZNF735,ZNF679,ZNF736
sanders_11_ASD_discovery_controls-11345.s1
Paternal
Simplex (quad)
NA
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_controls-11350.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11391.s1
Unknown
Simplex (quad)
NA
ZNF680
sanders_11_ASD_discovery_controls-11393.s1
Paternal
Simplex (quad)
NA
GUSB,VKORC1L1
sanders_11_ASD_discovery_controls-11540.s1
Paternal
Simplex (quad)
NA
RNU6-912P,GTF2IP5
sanders_11_ASD_discovery_controls-11581.s1
Maternal
Simplex (quad)
NA
VN1R42P,MTDHP1,RNU6-1229P,SNORA22C,SNORA15B-1,ZNF117,ERV3-1,CCT6P3,ZNF273
sanders_11_ASD_discovery_controls-11659.s1
Paternal
Simplex (quad)
NA
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_controls-11768.s1
Paternal
Simplex (quad)
NA
GTF2IP5
sanders_11_ASD_discovery_controls-11872.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12272.s1
Paternal
Simplex (quad)
NA
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_controls-12573.s1
Maternal
Simplex (quad)
NA
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_controls-12674.s1
Maternal
Simplex (quad)
NA
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_controls-12907.s1
Paternal
Simplex (quad)
NA
RSL24D1P3,ZNF92,INTS4P1
sanders_11_ASD_discovery_controls-13076.s1
Maternal
Simplex (quad)
NA
RSL24D1P3,ZNF92,INTS4P1
No Animal Model Data Available