2p11.2CNV Type: Deletion-Duplication
Largest CNV size: 1089121 bp
Statistics Box:
Number of Reports: 27
Number of Reports: 27
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
Deletion-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Duplication
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
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.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Global increases in both common and rare copy number load associated with autism.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
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.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
45
The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
Range, 6 months-25 years
48.89% Male
577979
0
1
1
bacchelli_19_ASD_discovery_cases
Siblings diagnosed with ASD born to unaffected parents with a maternally-inherited 2p11.2 deletion affecting the ELMOD3, CAPG, and SH2D6 genes
2
Cases diagnosed with ASD using ADOS protocols and clinical evaluation according to DSM-IV criteria
N/A
Male
36977
2
0
2
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
236
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
792000
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
714270
3
16
19
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
1227384
1
0
1
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.
351790
21
8
29
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
140757
0
5
5
gregory_09_ASD_discovery_cases
Probands from multiplex autism families
119
Idiopathic autism, minimum IQ equivalent of 35 or Vineland Adaptive Behavior Scale age equivalent of 18 months
78.15% Male
1089121
5
2
7
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
908155
3
3
6
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
216969
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
272803
0
4
4
lahbib_18_ASD/ID_discovery_cases
Proband from a consanguineous Tunisian family who was referred to the Department of Child and Adolescent Neurology of Tunis for delayed psychomotor development
1
ASD (results following evaluation with ADI-R performed at 12 years of age were consistent with a diagnosis of PDD-NOS, corresponding to a diagnosis of ASD according to DSM-5), severe intellectual disability, and hearing impairment
13 years
Male
25090
2
0
2
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
539231
1
0
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
600000
0
2
2
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
219000
0
1
1
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
425000
0
2
2
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
272803
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
586486
1
4
5
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)
285482
0
2
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
35658
2
0
2
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
66148
0
1
1
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
817193
17
19
36
sato_12_ASD_discovery_cases_2
Three additional affected males from four-generation family with ASD/BAP
3
Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
Range, 5 yrs. 8 mos.-95 yrs.
100% Male
149070
0
2
2
schuch_19_ASD_discovery_cases
Childen of European descent diagnosed with idiopathic ASD
40
Cases diagnosed with ASD according to DSM-IV criteria: 55% with autistic disorder, 45% with PDD-NOS, 5% with Asperger syndrome.
Mean, 7.83 2.95 yrs.
90.00% Male
222000
1
0
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
25875
1
0
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
169126
1
1
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_19_ASD_discovery_controls
Sardinian controls screened for 2p11.2 deletions affecting the ELMOD3, CAPG, and SH2D6 genes
80
Control
N/A
N/A
0
0
0
0
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
641641
2
13
15
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.
351790
2
3
5
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
324876
2
6
8
gregory_09_ASD_discovery_controls
Samples from 27 sex-mismatched hybridizations
54
Controls
50% Male
992860
0
1
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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
350943
0
2
2
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
383843
0
1
1
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
600000
0
1
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)
1072658
2
5
7
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)
35658
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.
817193
13
14
27
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
169126
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
France, Belgium
aCGH, solid phase hybridization
Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-12
None
bacchelli_19_ASD_discovery_cases
Sardinia
Solid phase hybridization
Illumina Human1M-Duo BeadChip
PennCNV, QuantiSNP, CNVPartition
GenomeStudio v2010.3
qPCR
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
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
aCGH (Nimblegen 3x720K or Agilent 2x400K)
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
gregory_09_ASD_discovery_cases
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
aCGH
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_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
lahbib_18_ASD/ID_discovery_cases
Tunisian
Solid phase hybridization
Illumina Human Omni Express
QuantiSNP, PennCNV
qPCR
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
sato_12_ASD_discovery_cases_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
schuch_19_ASD_discovery_cases
European
aCGH
Agilent 8x60K
ADM-2
Agilent Feature Extraction v.9.5.1, Agilent Cytogenomics v.2.7.8.0
None
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
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
bacchelli_19_ASD_discovery_controls
Sardinia
Solid phase hybridization
Illumina Human1M-Duo BeadChip
PennCNV, QuantiSNP, CNVPartition
GenomeStudio v2010.3
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
None
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
gregory_09_ASD_discovery_controls
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
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_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
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
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
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case33
2 yrs.
M
Motor delay and macrocephaly
Birth/neonatal history: prenatal period marked by macrocephaly; birth weight 90th %ile, length 90th %ile, OFC > 97th %ile; neonatal hypotonia. Developmental milestones: motor delay. Brain imaging: delayed myelination. Visual evaluation: nystagmus.
86941373
87446955
505583
GRCh38
Duplication
No
bacchelli_19_ASD_discovery_cases-caseAUT003.3
N/A
M
ASD
Case diagnosed with PDD-NOS at age of 7 years according to DSM-IV criteria. Motor and musculoskeletal evaluation: significant global motor clumsiness. Behavioral/psychiatric evaluation: deficit in reciprocal social interaction, restricted and repetitive interests, difficulty in changes in routine of daily life, deficit of eye contact. Family history: similarly affected brother and unaffected mother both have the same 2p11.2 deletion.
Leiter-R Intelligence Quotient (IQ) score of 106
85383169
85420166
36998
GRCh38
Deletion
Yes
bacchelli_19_ASD_discovery_cases-caseAUT003.4
N/A
M
ASD and ID
Case diagnosed with Autism Disorder at age of 4 years according to DSM-IV criteria. Language and communication evaluation: impairments in communication and language, significant delay in receptive and expressive language, echolalia, poor spontaneous verbalization. Behavioral/psychiatric evaluation: impaired reciprocal social interactions, restricted and repetitive interests, stereotypies. Family history: similarly affected brother and unaffected mother both have the same 2p11.2 deletion.
Leiter-R IQ score of 87 at time of ASD diagnosis, but significant cognitive delay at age of 10 years (IQ of 46)
85383169
85420166
36998
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11076
NA
M
ASD
NA
NA
86456752
86456988
237
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300133
N/A
M
Developmental delay/intellectual disability
CNV locus reported as 2p11.2-p11.1 in the report
89142365
90195158
1052794
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1199_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87134039
87679445
545407
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13129_1463
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86060257
86285979
225723
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13131_1483
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86067539
86282378
214840
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14275_3980
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87995713
88129315
133603
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14284_4070
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86060257
86285979
225723
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16031_1571005001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87145353
87556884
411532
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16046_1571092001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87145353
87534172
388820
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3026_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87134039
87498400
364362
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3556_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87254151
87529932
275782
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4439_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87145353
87516518
371166
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4453_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87134039
87720524
586486
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5039_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86965175
87679445
714271
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5262_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87134039
87720524
586486
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5317_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87075417
87713643
638227
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5352_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87134039
87486323
352285
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5356_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87134039
87701035
566997
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5358_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
87115789
87720524
604736
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5424_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
85387889
85420466
32578
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8483_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
86742648
86911609
168962
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU026503
Autism
89743465
90970848
1227384
Unknown
Deletion
No
girirajan_11_ASD_discovery_cases-Si10
7
M
Autism
ADOS score: 9. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 103; Non-verbal IQ, 100.
89896113
90209971
313859
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si11
10
F
Autism
ADOS score: 7. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 62; Verbal IQ, 67; Non-verbal IQ, 65.
87201524
87553314
351791
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si122
8
F
Autism
ADOS score: 6. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 122; Non-verbal IQ, 95.
89896113
90209971
313859
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si126
6
M
Autism
ADOS score: 6. Vineland composite score: 65.
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 78; Non-verbal IQ, 85.
87228438
87553314
324877
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si137
13
M
Autism
ADOS score: 10. Vineland composite score: 74.
Moderate mental retardation/intellectual disability. Full-scale IQ, 55; Verbal IQ, 39; Non-verbal IQ, 71.
89896113
90245546
349434
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si145
15
M
Autism
ADOS score: 9. Vineland composite score: 70.
Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 37; Non-verbal IQ, 68.
89896113
90209971
313859
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si153
10
M
Autism
ADOS score: 10. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 74; Non-verbal IQ, 103.
87251313
87553314
302002
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si154
7
M
Autism
ADOS score: NA. Vineland composite score: NA.
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
89896113
90245546
349434
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si155
13
M
Autism
ADOS score: 8. Vineland composite score: 80.
No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 120; Non-verbal IQ, 93.
89012398
89319792
307395
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si161
17
F
Autism
ADOS score: 6. Vineland composite score: 61.
No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 80; Non-verbal IQ, 74.
89896113
90209971
313859
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si175
16
F
Autism
ADOS score: 5. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
89012398
89319792
307395
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si175
16
F
Autism
ADOS score: 5. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
89896113
90245546
349434
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si178
7
M
Autism
ADOS score: 9. Vineland composite score: 70.
Mild mental retardation/intellectual disability. Full-scale IQ, 62; Verbal IQ, 64; Non-verbal IQ, 67.
89896113
90245546
349434
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si186
11
M
Autism
ADOS score: 5. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 86; Non-verbal IQ, 78.
89896113
90209971
313859
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si21
9
F
Autism
ADOS score: 10. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 77; Non-verbal IQ, 85.
89896113
90245546
349434
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si217
10
M
Autism
ADOS score: 7. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 82; Non-verbal IQ, 90.
89896113
90245546
349434
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si225
11
F
Autism
ADOS score: 8. Vineland composite score: 69.
Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 30; Non-verbal IQ, 49.
89012398
89319792
307395
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si225
11
F
Autism
ADOS score: 8. Vineland composite score: 69.
Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 30; Non-verbal IQ, 49.
89896113
90245546
349434
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si246
18
M
Autism
ADOS score: NA. Vineland composite score: 59.
No mental retardation/intellectual disability. Full-scale IQ, 119; Verbal IQ, 117; Non-verbal IQ, 118.
87201524
87553314
351791
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si255
6
M
Autism
ADOS score: 5. Vineland composite score: 88.
No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 99; Non-verbal IQ, 101.
89896113
90209971
313859
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si313
13
M
Autism
ADOS score: 8. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 108; Non-verbal IQ, 108.
89896113
90209971
313859
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si315
9
M
Autism
ADOS score: 10. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 97; Non-verbal IQ, 89.
89896113
90245546
349434
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si317
16
M
Autism
ADOS score: 8. Vineland composite score: 93.
No mental retardation/intellectual disability. Full-scale IQ, 95; Verbal IQ, 98; Non-verbal IQ, 94.
89896113
90209971
313859
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si320
9
M
Autism
ADOS score: 7. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 110; Non-verbal IQ, 101.
89896113
90209971
313859
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si320
9
M
Autism
ADOS score: 7. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 110; Non-verbal IQ, 101.
87201524
87553314
351791
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si321
8
M
Autism
ADOS score: 10. Vineland composite score: 67.
Moderate mental retardation/intellectual disability. Full-scale IQ, 54; Verbal IQ, 60; Non-verbal IQ, 59.
89896113
90245546
349434
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si340
11
M
Autism
ADOS score: 10. Vineland composite score: 73.
Mild mental retardation/intellectual disability. Full-scale IQ, 68; Verbal IQ, 51; Non-verbal IQ, 85.
89029288
89319792
290505
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si47
7
M
Autism
ADOS score: 7. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 56; Non-verbal IQ, 89.
89896113
90209971
313859
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si69
6
M
Autism
ADOS score: 5. Vineland composite score: 62.
No mental retardation/intellectual disability. Full-scale IQ, 98; Verbal IQ, 95; Non-verbal IQ, 101.
89896113
90245546
349434
GRCh38
Duplication
Yes
girirajan_13b_ASD_discovery_cases-30408110274
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
88863992
89001666
137675
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-38209111900
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
88860686
89001458
140773
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-38705103315
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
88861203
89001666
140464
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-48704101611
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
88863992
89001570
137579
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-71104102660
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
88861203
89001458
140256
GRCh38
Duplication
No
gregory_09_ASD_discovery_cases-19951040
NA
ASD
NA
NA
88630964
90124561
1493598
GRCh38
Deletion
No
gregory_09_ASD_discovery_cases-19960670
NA
ASD
NA
NA
88686686
90124561
1437876
GRCh38
Deletion
No
gregory_09_ASD_discovery_cases-19972090
NA
ASD
NA
NA
88727236
90124561
1397326
GRCh38
Duplication
No
gregory_09_ASD_discovery_cases-20005384
NA
ASD
NA
NA
88630964
90124561
1493598
GRCh38
Deletion
Yes
gregory_09_ASD_discovery_cases-200300537
NA
ASD
NA
NA
88804298
90124561
1320264
GRCh38
Duplication
No
gregory_09_ASD_discovery_cases-200307408
NA
ASD
NA
NA
88630964
90124561
1493598
GRCh38
Deletion
Yes
gregory_09_ASD_discovery_cases-200506370
NA
ASD
NA
NA
88804298
90124561
1320264
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000606
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
87148954
87705899
556946
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002423
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
86073968
86251223
177256
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002498
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
86395172
86859284
464113
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004019
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
86797744
87705899
908156
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004301
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
87961218
88738661
777444
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004902
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
86026429
86242094
215666
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11895.p1
N/A
M
ASD
ASD proband from SSC quad family 11895. SRS score of 70.
Full-scale IQ (FSIQ) score of 86.
86065273
86282242
216970
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11893.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
86065273
86282242
216970
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11895.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
86065273
86338076
272804
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12119.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
86065273
86264041
198769
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13854.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
86054139
86282242
228104
GRCh38
Duplication
Yes
lahbib_18_ASD/ID_discovery_cases-case1
13 yrs.
M
ASD and intellectual disability
Birth/neonatal history: born at term by spontaneous vaginal delivery following uncomplicated pregnancy; birth weight of 3650 g, length of 50 cm, head circumference of 35 cm. Developmental milestones: delayed psychomotor development noted at 5 months (hypotonia and loss of head control); sitting at 18 months, walking at 20 months; severe language delay. Language and communication evaluation: expressive language delay (expressive language limited to sounds and some bilateral syllables). Motor and musculoskeletal evaluation: normal and autonomous walking at 5 years. Behavioral/psychiatric evaluation: heteroaggressive behavior with a high degree of frustration; scores of 33 on the B subscale (threshold of 10), 14 on the C subscale (threshold of 7), and 2 on the D subscale (threshold of 3) on the ADI-R performed at 12 years of age revealed significant impairment in social interaction and verbal and non-verbal communication without significant restricted interests ot stereotyped patterns of behavior consistent with a diagnosis of PDD-NOS (corresponding to a diagnosis of ASD according to DSM-5). EEG: normal EEG. Brain imaging: normal brain MRI. Visual evaluation: good eye pursuit. Auditory evaluation: moderate hearing impairment noted at 3 years of age (brainstem evoked response thresholds of 70 dB and 40 dB in left and right ears, respectively); brainstem evoked response performed at 5 years showed bilateral profound hearing loss (threshold of 100 dB). Additional medical history: sphincter control disorder (primary enuresis), geophagy, drooling. Dysmorphic features: large ears, thin lips. Family history: first child of first-degree cousins of Tunisian ethnicity; both parents (who are heterozygous for the 2p11.2 deletion) and the case's brother (who does not carry the 2p11.2 deletion but does carry the 1q25.2 duplication) are unaffected.
Severe intellectual disability (diagnosis based on neuropsychological assessment at 5 years of age)
85387885
85412975
25091
GRCh38
Homozygous deletion
Yes
leblond_12_ASD_replication_cases-Pintocase6319_3
NA
M
PDD-NOS
ADI-R domain scores: social, 14; communication, 8; behaviors, 2; age at first symptoms <36 months. Developmental milestones: delayed langauge (1st words at 24 months, 1st sentences at 48 months); no history of regression. Language and communication evaluation: delayed but functional language. Epilepsy/seizures: no history of epilepsy. Neurological examination: normal. Dysmorphic features: large and prominent ears, flat feet. Other comorbid medical conditions: hypermetropia.
Mild intellectual disability (ID). WISC-III IQ scores: full-scale IQ, 60; performance IQ, 60; verbal IQ, 67.
89309523
90253459
943937
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU3180303
N/A
M
ASD
87164877
87695481
530605
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU3638302
N/A
M
ASD
87164877
87695481
530605
GRCh38
Duplication
No
monteiro_19_ASD_discovery_cases_case4
N/A
M
ASD, DD, and ID
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: developmental delay. Dysmorphic features: present.
Intellectual disability
86067353
86285879
218527
GRCh38
Duplication
No
napoli_17_ASD_discovery_cases-case36
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
85767728
86192344
424617
GRCh38
Duplication
Yes
napoli_17_ASD_discovery_cases-case37
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
85767728
86192344
424617
GRCh38
Duplication
Yes
o'roak_12_ASD_discovery_cases-case11895.p1
NA
M
ASD/Autism
Case also identified with de novo GMFG synonymous mutation. No additional clinical info available.
High IQ. Non verbal IQ, 92
86065273
86338076
272804
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5039_4
NA
M
ASD
NA
NA
86965175
87679445
714271
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5262_4
NA
M
Autism
Anxiety symptoms, below average language (<1%ile), cleft palate, congenital diaphragmatic hernia, epilepsy, recurrent ear infections, short stature, alopecia in left parietal area, hypertelorism, epicanthic folds, small ears with curved pinnae, smooth philtrum, 5th finger clinodactyly, hyperextensibility, scoliosis; 16p11.2 microdeletion syndrome
Below average nonverbal IQ (4%ile)
87134039
87720524
586486
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5352_3
NA
F
ASD
NA
NA
87134039
87486323
352285
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5356_3
NA
F
ASD
NA
NA
87134039
87701035
566997
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5424_3
NA
M
ASD
NA
NA
85387889
85420466
32578
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case99HI0748
N/A
M
ASD
ASD case from AGRE (AGRE ID AU004403; NDAR ID NDAR_INVME853EKT)
88857361
89142872
285512
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-caseHI0927
N/A
M
ASD
ASD case from AGRE (AGRE ID AU060004; NDAR ID NDAR_INVCU175JXJ)
86751894
86858418
106525
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case107204L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
85464878
85500535
35658
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case76821-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
85464878
85500535
35658
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-137
N/A
N/A
CBLH-PMG
Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
87162543
87228690
66148
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11032.p1
5.8
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 84; verbal IQ, 103
88850700
89990175
1139476
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
89051913
90273552
1221640
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
83927936
83946290
18355
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11214.p1
15.5
M
ASD
NA
Full-scale IQ, 93; non-verbal IQ, 100; verbal IQ, 83
87134039
87314821
180783
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11255.p1
12.7
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 108; verbal IQ 130
86060257
86282378
222122
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11410.p1
6.6
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 74; verbal IQ, 40
88850700
89239751
389052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11485.p1
5.6
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
87145353
87679445
534093
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11519.p1
6.7
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 84; verbal IQ, 23
87458477
87679445
220969
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11523.p1
6.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 72
87283745
87330014
46270
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11523.p1
6.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 72
87134039
87220821
86783
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11532.p1
9.1
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 65; verbal IQ, 60
87134039
87330014
195976
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11538.p1
5.8
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 85
88850700
89213423
362724
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11542.p1
12.5
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 102; verbal IQ, 121
87329184
87660009
330826
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11542.p1
12.5
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 102; verbal IQ, 121
87162543
87228690
66148
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11550.p1
8.1
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 99
87432239
87701035
268797
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11557.p1
4.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
88850700
89208087
357388
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11563.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 101; verbal IQ, 110
87145353
87701035
555683
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11644.p1
17
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
87030964
87630279
599316
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11698.p1
8.4
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 110; verbal IQ, 117
88850700
89316579
465880
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11893.p1
8.3
F
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 49; verbal IQ, 30
86067539
86282378
214840
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11989.p1
9.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
87368797
87427024
58228
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12215.p1
4.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 113; verbal IQ, 96
84321566
84332026
10461
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12308.p1
14.3
F
Aspergers
NA
Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 105
89027179
89967299
940121
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12315.p1
5.8
M
ASD
NA
Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
87134039
87295154
161116
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12332.p1
12.3
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
83910752
83960305
49554
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12346.p1
13.4
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 77; verbal IQ, 106
87445463
87584265
138803
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12415.p1
12.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 89
87134039
87343607
209569
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12423.p1
10.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 115; verbal IQ, 82
83927936
83946290
18355
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12480.p1
13.1
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 96
87162543
87343607
181065
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12984.p1
10.1
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 102; verbal IQ, 96
83927936
83960305
32370
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13018.p1
12.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75
87134039
87551371
417333
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13065.p1
5.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
84513285
84551504
38220
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13083.p1
7.5
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
83927936
83960305
32370
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13175.p1
11.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
83927936
83960305
32370
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13187.p1
9.5
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 83; verbal IQ, 86
87134039
87314821
180783
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
83927936
83946290
18355
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_2-family1caseIV-3
5 yrs. 8 mos.
M
Asperger
Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
88864150
89013234
149085
GRCh38
Duplication
No
sato_12_ASD_discovery_cases_2-family1caseIV-3
5 yrs. 8 mos.
M
Asperger
Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
88833253
88860650
27398
GRCh38
Duplication
No
schuch_19_ASD_discovery_cases-case3
N/A
M
ASD
PDD-NOS, mood instability, echolalia, repetitive movements, sleep disturbance.
89973527
90195158
221632
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
88833253
88859127
25875
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case64
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
86934718
87103843
169126
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case65
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
87110834
87117603
6770
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036001873_
N/A
N/A
Control
No previous psychiatric history
87134039
87720524
586486
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB153182_1007874320
N/A
N/A
Control
No previous psychiatric history
87134039
87720524
586486
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB253250_1007841374
N/A
N/A
Control
No previous psychiatric history
87115789
87565296
449508
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB526636_1007854065
N/A
N/A
Control
No previous psychiatric history
87093287
87720524
627238
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB667500_1007874677
N/A
N/A
Control
No previous psychiatric history
87093287
87734928
641642
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB697076_1007841045
N/A
N/A
Control
No previous psychiatric history
87134039
87556884
422846
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB834607_0067942618
N/A
N/A
Control
No previous psychiatric history
87115789
87720524
604736
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB841482_1007854027
N/A
N/A
Control
No previous psychiatric history
87134039
87720524
586486
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB973991_1007842439
N/A
N/A
Control
No previous psychiatric history
87254151
87556884
302734
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900168_900168
N/A
N/A
Control
No previous psychiatric history
87134039
87713643
579605
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900360_900360
N/A
N/A
Control
No previous psychiatric history
87134039
87713643
579605
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900510_900510
N/A
N/A
Control
No previous psychiatric history
87134039
87498400
364362
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900871_900871
N/A
N/A
Control
No previous psychiatric history
87134039
87713643
579605
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900878_900878
N/A
N/A
Control
No previous psychiatric history
87110814
87737794
626981
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902858_902858
N/A
N/A
Control
No previous psychiatric history
87254151
87498400
244250
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_154
NA
NA
Control
NA
NA
87201524
87553314
351791
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_201
NA
NA
Control
NA
NA
87201524
87553314
351791
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_224
NA
NA
Control
NA
NA
87201524
87553314
351791
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_262
NA
NA
Control
NA
NA
88859711
89031623
171913
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_269
NA
NA
Control
NA
NA
88859711
89095166
235456
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-20809111324
N/A
N/A
Control
Ethnicity: Hispanic
N/A
88857424
89029288
171865
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-35208110427
N/A
N/A
Control
Ethnicity: Hispanic
N/A
88857424
89002987
145564
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-36206106646
N/A
N/A
Control
Ethnicity: African American
N/A
89012398
89319792
307395
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-38308110558
N/A
N/A
Control
Ethnicity: Hispanic
N/A
88851629
89002987
151359
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-40804101794
N/A
N/A
Control
Ethnicity: Hispanic
N/A
88855708
89029288
173581
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-6608109280
N/A
N/A
Control
Ethnicity: Hispanic
N/A
88851313
89002987
151675
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-72204103059
N/A
N/A
Control
Ethnicity: Hispanic
N/A
88855708
89058717
203010
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-72204103059
N/A
N/A
Control
Ethnicity: Hispanic
N/A
87228438
87553314
324877
GRCh38
Deletion
No
gregory_09_ASD_discovery_controls-control1
NA
Control
NA
NA
992860
NCBI36
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1255
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
87430727
87781669
350943
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split714
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
87430727
87781669
350943
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control13853.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
85763990
86147833
383844
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_controls-AU3614302
N/A
F
Control
Unaffected sibling
87164877
87695481
530605
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C27265A
N/A
M
Control
NIMH Control (NIMH ID 91870)
88857361
89142872
285512
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C36281A
N/A
F
Control
NIMH Control (NIMH ID 65565)
88857361
88978766
121406
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C37795A
N/A
F
Control
NIMH Control (NIMH ID 19841)
88857361
90190679
1333319
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C41082B
N/A
M
Control
NIMH Control (NIMH ID 12175)
88885840
90190679
1304840
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C41827
N/A
F
Control
NIMH Control (NIMH ID 49525)
88857361
89142872
285512
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C42185
N/A
F
Control
NIMH Control (NIMH ID 53633)
88885840
89142872
257033
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C43952
N/A
M
Control
NIMH Control (NIMH ID 85719)
86065272
86282244
216973
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11110.s1
16.8
M
Control (matched sibling)
NA
NA
83927936
83960305
32370
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11158.s1
11.6
M
Control (matched sibling)
NA
NA
83927936
83948402
20467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11160.s1
11.5
M
Control (matched sibling)
NA
NA
87162543
87494990
332448
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11199.s1
13.6
M
Control (matched sibling)
NA
NA
87162543
87220821
58279
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11215.s1
7.3
M
Control (matched sibling)
NA
NA
88850700
89217056
366357
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11266.s1
5.8
F
Control (matched sibling)
NA
NA
88947316
89027340
80025
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11318.s1
5.7
M
Control (matched sibling)
NA
NA
87134039
87660009
525971
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11329.s1
6.9
M
Control (matched sibling)
NA
NA
88850700
89239751
389052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11356.s1
9.3
M
Control (matched sibling)
NA
NA
87197656
87701035
503380
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11447.s1
8.4
F
Control (matched sibling)
NA
NA
89051913
90273552
1221640
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11519.s1
4.3
F
Control (matched sibling)
NA
NA
87134039
87643598
509560
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11532.s1
13.5
F
Control (matched sibling)
NA
NA
87134039
87283745
149707
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11542.s1
14.6
F
Control (matched sibling)
NA
NA
87162543
87701035
538493
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11644.s1
14.2
F
Control (matched sibling)
NA
NA
87388533
87427024
38492
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11666.s1
9.1
M
Control (matched sibling)
NA
NA
87134039
87701035
566997
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11909.s1
5.7
M
Control (matched sibling)
NA
NA
83927936
83960305
32370
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11989.s1
8.1
F
Control (matched sibling)
NA
NA
87134039
87567338
433300
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12076.s1
6.2
M
Control (matched sibling)
NA
NA
87134039
87203604
69566
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12356.s1
7.8
F
Control (matched sibling)
NA
NA
85706244
85712270
6027
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12441.s1
10.6
F
Control (matched sibling)
NA
NA
83927936
83960305
32370
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12597.s1
5.3
F
Control (matched sibling)
NA
NA
83927936
83962803
34868
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12704.s1
6.4
F
Control (matched sibling)
NA
NA
87162543
87283745
121203
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12723.s1
8.7
F
Control (matched sibling)
NA
NA
83917535
83948402
30868
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12984.s1
12
M
Control (matched sibling)
NA
NA
83927936
83960305
32370
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13083.s1
9.8
F
Control (matched sibling)
NA
NA
83927936
83960305
32370
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13251.s1
6.3
F
Control (matched sibling)
NA
NA
87839969
87949889
109921
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13301.s1
12.3
M
Control (matched sibling)
NA
NA
87441425
87567338
125914
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case33
Unknown
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,RGPD1,PLGLB1,LINC01943
bacchelli_19_ASD_discovery_cases-caseAUT003.3
qPCR
Maternal
Multiplex
Segregated
ELMOD3,CAPG,SH2D6
Reduced CAPG gene and protein expression in both affected siblings and unaffected mother compared to
bacchelli_19_ASD_discovery_cases-caseAUT003.4
qPCR
Maternal
Multiplex
Segregated
ELMOD3,CAPG,SH2D6
Reduced CAPG gene and protein expression in both affected siblings and unaffected mother compared to
celestino-soper_11_ASD_discovery_cases-11076
Unknown
Simplex
NA
KDM3A
digregorio_17_DD/ID_discovery_cases-DECIPHER_300133
Maternal
IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV2D-29,IGKV1D-33
engchuan_15_ASD_discovery_cases-case1199_3
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
engchuan_15_ASD_discovery_cases-case13129_1463
Unknown
SNORD94,MIR4779,POLR1A,IMMT,MRPL35,PTCD3,REEP1
engchuan_15_ASD_discovery_cases-case13131_1483
Unknown
SNORD94,MIR4779,POLR1A,IMMT,MRPL35,PTCD3,REEP1
engchuan_15_ASD_discovery_cases-case14275_3980
Unknown
RNU2-63P,MIR4780,FABP1,KRCC1,SMYD1
engchuan_15_ASD_discovery_cases-case14284_4070
Unknown
SNORD94,MIR4779,POLR1A,IMMT,MRPL35,PTCD3,REEP1
engchuan_15_ASD_discovery_cases-case16031_1571005001
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,LINC01943,CYTOR
engchuan_15_ASD_discovery_cases-case16046_1571092001
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,LINC01943,CYTOR
engchuan_15_ASD_discovery_cases-case3026_4
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,LINC01943,CYTOR
engchuan_15_ASD_discovery_cases-case3556_3
Unknown
IGKV3OR2-268,LINC01943,CYTOR
engchuan_15_ASD_discovery_cases-case4439_1
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,LINC01943,CYTOR
engchuan_15_ASD_discovery_cases-case4453_1
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
engchuan_15_ASD_discovery_cases-case5039_4
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,RGPD1,PLGLB1,LINC01943,CYTOR
engchuan_15_ASD_discovery_cases-case5262_4
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
engchuan_15_ASD_discovery_cases-case5317_3
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
engchuan_15_ASD_discovery_cases-case5352_3
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,LINC01943,CYTOR
engchuan_15_ASD_discovery_cases-case5356_3
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
engchuan_15_ASD_discovery_cases-case5358_3
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
engchuan_15_ASD_discovery_cases-case5424_3
Unknown
ELMOD3,CAPG,SH2D6
engchuan_15_ASD_discovery_cases-case8483_201
Unknown
CD8A,CD8B,RGPD1,RMND5A,ANAPC1P1
gai_11_ASD_replication_cases-AU026503
Inherited
0 genes
girirajan_11_ASD_discovery_cases-Si10
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si11
Unknown
Simplex
LINC01955,IGKV3OR2-268,LINC01943,CYTOR
girirajan_11_ASD_discovery_cases-Si122
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si126
Unknown
Simplex
LINC01955,IGKV3OR2-268,LINC01943,CYTOR
girirajan_11_ASD_discovery_cases-Si137
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV1D-8,IGKV3D-7,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si145
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si153
Unknown
Simplex
LINC01955,IGKV3OR2-268,LINC01943,CYTOR
girirajan_11_ASD_discovery_cases-Si154
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV1D-8,IGKV3D-7,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si155
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-18
girirajan_11_ASD_discovery_cases-Si161
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si175
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-18
girirajan_11_ASD_discovery_cases-Si175
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV1D-8,IGKV3D-7,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si178
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV1D-8,IGKV3D-7,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si186
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si21
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV1D-8,IGKV3D-7,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si217
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV1D-8,IGKV3D-7,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si225
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-18
girirajan_11_ASD_discovery_cases-Si225
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV1D-8,IGKV3D-7,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si246
Unknown
Simplex
LINC01955,IGKV3OR2-268,LINC01943,CYTOR
girirajan_11_ASD_discovery_cases-Si255
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si313
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si315
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV1D-8,IGKV3D-7,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si317
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si320
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si320
Unknown
Simplex
LINC01955,IGKV3OR2-268,LINC01943,CYTOR
girirajan_11_ASD_discovery_cases-Si321
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV1D-8,IGKV3D-7,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si340
Unknown
Simplex
IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-18
girirajan_11_ASD_discovery_cases-Si47
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_11_ASD_discovery_cases-Si69
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV1D-8,IGKV3D-7,IGKV2D-29,IGKV1D-43,IGKV1D-33
girirajan_13b_ASD_discovery_cases-30408110274
Unknown
Unknown
Unknown
IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV2-4
girirajan_13b_ASD_discovery_cases-38209111900
Unknown
Unknown
Unknown
IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV2-4
girirajan_13b_ASD_discovery_cases-38705103315
Unknown
Unknown
Unknown
IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV2-4
girirajan_13b_ASD_discovery_cases-48704101611
Unknown
Unknown
Unknown
IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV2-4
girirajan_13b_ASD_discovery_cases-71104102660
Unknown
Unknown
Unknown
IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV2-4
gregory_09_ASD_discovery_cases-19951040
Unknown
NA
NA
MIR4436A,IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,ANKRD36BP2,IGKV2-4,IGKV2D-29,RPIA,IGKV1D-33,IGKV2-18
gregory_09_ASD_discovery_cases-19960670
Unknown
NA
NA
MIR4436A,IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,ANKRD36BP2,IGKV2-4,IGKV2D-29,RPIA,IGKV1D-33,IGKV2-18
gregory_09_ASD_discovery_cases-19972090
Unknown
NA
NA
MIR4436A,IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,ANKRD36BP2,IGKV2-4,IGKV2D-29,RPIA,IGKV1D-33,IGKV2-18
gregory_09_ASD_discovery_cases-20005384
aCGH dye swap
Unknown
NA
NA
MIR4436A,IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,ANKRD36BP2,IGKV2-4,IGKV2D-29,RPIA,IGKV1D-33,IGKV2-18
gregory_09_ASD_discovery_cases-200300537
Unknown
NA
NA
MIR4436A,IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,ANKRD36BP2,IGKV2-4,IGKV2D-29,IGKV1D-33,IGKV2-18
gregory_09_ASD_discovery_cases-200307408
aCGH dye swap
Unknown
NA
NA
MIR4436A,IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,ANKRD36BP2,IGKV2-4,IGKV2D-29,RPIA,IGKV1D-33,IGKV2-18
gregory_09_ASD_discovery_cases-200506370
aCGH dye swap
Unknown
NA
NA
MIR4436A,IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,ANKRD36BP2,IGKV2-4,IGKV2D-29,IGKV1D-33,IGKV2-18
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000606
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002423
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SNORD94,MIR4779,POLR1A,IMMT,MRPL35,PTCD3,REEP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002498
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-640P,KDM3A,RNF103,CD8A,CD8B,CHMP3,RNF103-CHMP3,RMND5A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004019
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NDUFB4P5,MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,CD8A,CD8B,RGPD1,PLGLB1,LINC01943,ANAPC1P1,CYTOR
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004301
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NDUFB4P7,RNU2-63P,MIR4780,FABP1,MRPL45P1,RNU6-1168P,RNU6-1007P,FOXI3,TEX37,KRCC1,THNSL2,EIF2AK3,RPIA,SMYD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004902
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SNORD94,MIR4779,POLR1A,IMMT,MRPL35,PTCD3,REEP1
krumm_13_ASD_discovery_cases-case11895.p1
Paternal
Simplex
Segregated
SNORD94,MIR4779,POLR1A,IMMT,MRPL35,PTCD3,REEP1
krumm_15_ASD_discovery_cases-case11893.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
SNORD94,MIR4779,POLR1A,IMMT,MRPL35,PTCD3,REEP1
krumm_15_ASD_discovery_cases-case11895.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
SNORD94,MIR4779,POLR1A,IMMT,MRPL35,PTCD3,REEP1
krumm_15_ASD_discovery_cases-case12119.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
SNORD94,MIR4779,POLR1A,IMMT,MRPL35,PTCD3,REEP1
krumm_15_ASD_discovery_cases-case13854.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
SNORD94,MIR4779,POLR1A,IMMT,MRPL35,PTCD3,REEP1
lahbib_18_ASD/ID_discovery_cases-case1
qPCR
Both parents
Simplex
Segregated
ELMOD3,CAPG
leblond_12_ASD_replication_cases-Pintocase6319_3
Paternal
IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV1D-8,IGKV3D-7,IGKV2D-29,IGKV1D-43,IGKV1D-33
leppa_16_ASD_discovery_cases-AU3180303
Maternal
Multiplex
Not segregated (CNV not present in affected sibling)
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
leppa_16_ASD_discovery_cases-AU3638302
Maternal
Simplex
Segregated (CNV not present in unaffected sibling)
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
monteiro_19_ASD_discovery_cases_case4
Paternal
SNORD94,MIR4779,POLR1A,IMMT,MRPL35,PTCD3,REEP1
napoli_17_ASD_discovery_cases-case36
RT-PCR
Paternal
MIR6071,RN7SKP83,ST3GAL5-AS1,SNORD94,ATOH8,POLR1A,IMMT,ST3GAL5,PTCD3
napoli_17_ASD_discovery_cases-case37
RT-PCR
Paternal
MIR6071,RN7SKP83,ST3GAL5-AS1,SNORD94,ATOH8,POLR1A,IMMT,ST3GAL5,PTCD3
o'roak_12_ASD_discovery_cases-case11895.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
SNORD94,MIR4779,POLR1A,IMMT,MRPL35,PTCD3,REEP1
pinto_10_ASD_discovery_cases-case5039_4
Agilent1M
paternal
NA
NA
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,RGPD1,PLGLB1,LINC01943,CYTOR
pinto_10_ASD_discovery_cases-case5262_4
Agilent1M
paternal
Simplex
NA
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
pinto_10_ASD_discovery_cases-case5352_3
Agilent1M
paternal
NA
NA
MIR4771-1,LINC01955,IGKV3OR2-268,LINC01943,CYTOR
pinto_10_ASD_discovery_cases-case5356_3
Agilent1M
paternal
NA
NA
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
pinto_10_ASD_discovery_cases-case5424_3
Agilent1M
paternal
NA
NA
ELMOD3,CAPG,SH2D6
poultney_13_ASD_discovery_cases-case99HI0748
Unknown
Unknown (likely multiplex/AGRE)
Unknown
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV2-4,IGKV2-18
poultney_13_ASD_discovery_cases-caseHI0927
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CD8A,CD8B,RMND5A
prasad_12_ASD_discovery_cases-case107204L
Unknown
Unknown
Unknown
ELMOD3,CAPG
prasad_12_ASD_discovery_cases-case76821-L
Unknown
Unknown
Unknown
ELMOD3,CAPG
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-137
Not tested by qPCR
Unknown
Unknown
Unknown
MIR4771-1
sanders_11_ASD_discovery_cases-11032.p1
Maternal
Simplex (quad-proband matched)
Segregated
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2-4,IGKV2D-29,IGKV1D-33,IGKV2-18
sanders_11_ASD_discovery_cases-11033.p1
Unknown
Simplex (quad-proband matched)
Segregated
IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV1D-8,IGKV3D-7,IGKV2D-29,IGKV1D-43,IGKV1D-33,IGKV2-18
sanders_11_ASD_discovery_cases-11158.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11214.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MIR4771-1,LINC01955
sanders_11_ASD_discovery_cases-11255.p1
Maternal
Simplex (trio)
NA
SNORD94,MIR4779,POLR1A,IMMT,MRPL35,PTCD3,REEP1
sanders_11_ASD_discovery_cases-11410.p1
Unknown
Simplex (quad-proband matched)
Not segregated
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-4,IGKV2-18
sanders_11_ASD_discovery_cases-11485.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
sanders_11_ASD_discovery_cases-11519.p1
Paternal
Simplex (quad-proband matched)
Segregated
MIR4435-1,LINC01943,CYTOR
sanders_11_ASD_discovery_cases-11523.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11523.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR4771-1
sanders_11_ASD_discovery_cases-11532.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR4771-1,LINC01955
sanders_11_ASD_discovery_cases-11538.p1
Unknown
Simplex (quad-proband matched)
Not segregated
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV2-4,IGKV2-18
sanders_11_ASD_discovery_cases-11542.p1
Paternal
Simplex (quad-proband matched)
Not segregated
IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
sanders_11_ASD_discovery_cases-11542.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR4771-1
sanders_11_ASD_discovery_cases-11550.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR4435-1,LINC01943,CYTOR
sanders_11_ASD_discovery_cases-11557.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV2-4,IGKV2-18
sanders_11_ASD_discovery_cases-11563.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
sanders_11_ASD_discovery_cases-11644.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
sanders_11_ASD_discovery_cases-11698.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV2-4,IGKV2-18
sanders_11_ASD_discovery_cases-11893.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
SNORD94,MIR4779,POLR1A,IMMT,MRPL35,PTCD3,REEP1
sanders_11_ASD_discovery_cases-11989.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12215.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12308.p1
Unknown
Simplex (quad-proband matched)
Not segregated
IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV2D-29,IGKV1D-33,IGKV2-18
sanders_11_ASD_discovery_cases-12315.p1
Unknown
Simplex (trio)
NA
MIR4771-1,LINC01955
sanders_11_ASD_discovery_cases-12332.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12346.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC01943,CYTOR
sanders_11_ASD_discovery_cases-12415.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR4771-1,LINC01955,IGKV3OR2-268
sanders_11_ASD_discovery_cases-12423.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12480.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268
sanders_11_ASD_discovery_cases-12984.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13018.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR4771-1,LINC01955,IGKV3OR2-268,LINC01943,CYTOR
sanders_11_ASD_discovery_cases-13065.p1
Maternal
Simplex (trio)
NA
DNAH6
sanders_11_ASD_discovery_cases-13083.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13175.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13187.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MIR4771-1,LINC01955
sanders_11_ASD_discovery_cases-13296.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-4
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
IGKC,IGKJ5
schuch_19_ASD_discovery_cases-case3
Unknown
Unknown
Unknown
IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
IGKC
yin_16_ASD_discovery_cases-case64
Unknown
Unknown
Unknown
NDUFB4P5,RGPD1,PLGLB1
yin_16_ASD_discovery_cases-case65
Unknown
Unknown
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036001873_
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
engchuan_15_ASD_discovery_controls-controlB153182_1007874320
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
engchuan_15_ASD_discovery_controls-controlB253250_1007841374
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,LINC01943,CYTOR
engchuan_15_ASD_discovery_controls-controlB526636_1007854065
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
engchuan_15_ASD_discovery_controls-controlB667500_1007874677
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
engchuan_15_ASD_discovery_controls-controlB697076_1007841045
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,LINC01943,CYTOR
engchuan_15_ASD_discovery_controls-controlB834607_0067942618
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
engchuan_15_ASD_discovery_controls-controlB841482_1007854027
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
engchuan_15_ASD_discovery_controls-controlB973991_1007842439
Unknown
IGKV3OR2-268,LINC01943,CYTOR
engchuan_15_ASD_discovery_controls-controlHABC_900168_900168
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
engchuan_15_ASD_discovery_controls-controlHABC_900360_900360
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
engchuan_15_ASD_discovery_controls-controlHABC_900510_900510
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,LINC01943,CYTOR
engchuan_15_ASD_discovery_controls-controlHABC_900871_900871
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
engchuan_15_ASD_discovery_controls-controlHABC_900878_900878
Unknown
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
engchuan_15_ASD_discovery_controls-controlHABC_902858_902858
Unknown
IGKV3OR2-268,LINC01943,CYTOR
girirajan_11_ASD_discovery_controls-NIMH_154
Unknown
LINC01955,IGKV3OR2-268,LINC01943,CYTOR
girirajan_11_ASD_discovery_controls-NIMH_201
Unknown
LINC01955,IGKV3OR2-268,LINC01943,CYTOR
girirajan_11_ASD_discovery_controls-NIMH_224
Unknown
LINC01955,IGKV3OR2-268,LINC01943,CYTOR
girirajan_11_ASD_discovery_controls-NIMH_262
Unknown
IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV2-4
girirajan_11_ASD_discovery_controls-NIMH_269
Unknown
IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV2-4
girirajan_13b_ASD_discovery_controls-20809111324
Unknown
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV2-4
girirajan_13b_ASD_discovery_controls-35208110427
Unknown
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV2-4
girirajan_13b_ASD_discovery_controls-36206106646
Unknown
IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-18
girirajan_13b_ASD_discovery_controls-38308110558
Unknown
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV2-4
girirajan_13b_ASD_discovery_controls-40804101794
Unknown
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV2-4
girirajan_13b_ASD_discovery_controls-6608109280
Unknown
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV2-4
girirajan_13b_ASD_discovery_controls-72204103059
Unknown
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-4
girirajan_13b_ASD_discovery_controls-72204103059
Unknown
LINC01955,IGKV3OR2-268,LINC01943,CYTOR
gregory_09_ASD_discovery_controls-control1
Unknown
NA
NA
kanduri_15_ASD_discovery_controls-control_split1255
Unknown
LINC00152 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_controls-control_split714
Unknown
LINC00152 (non-coding RNA, exonic)
krumm_15_ASD_discovery_controls-control13853.s1
Omni2.5-4v1
Maternal
MIR6071,RN7SKP83,ST3GAL5-AS1,SNORD94,ATOH8,POLR1A,IMMT,ST3GAL5,PTCD3
leppa_16_ASD_discovery_controls-AU3614302
Paternal
Simplex
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
poultney_13_ASD_discovery_controls-control04C27265A
Unknown
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV2-4,IGKV2-18
poultney_13_ASD_discovery_controls-control04C36281A
Unknown
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV2-4
poultney_13_ASD_discovery_controls-control04C37795A
Unknown
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV2-4,IGKV2D-29,IGKV1D-33,IGKV2-18
poultney_13_ASD_discovery_controls-control05C41082B
Unknown
IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV2-4,IGKV2D-29,IGKV1D-33,IGKV2-18
poultney_13_ASD_discovery_controls-control05C41827
Unknown
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV2-4,IGKV2-18
poultney_13_ASD_discovery_controls-control05C42185
Unknown
IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV2-4,IGKV2-18
poultney_13_ASD_discovery_controls-control05C43952
Unknown
SNORD94,MIR4779,POLR1A,IMMT,MRPL35,PTCD3,REEP1
sanders_11_ASD_discovery_controls-11110.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11158.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11160.s1
Unknown
Simplex (quad)
NA
MIR4771-1,LINC01955,IGKV3OR2-268,LINC01943,CYTOR
sanders_11_ASD_discovery_controls-11199.s1
Unknown
Simplex (quad)
NA
MIR4771-1
sanders_11_ASD_discovery_controls-11215.s1
Unknown
Simplex (quad)
NA
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-4,IGKV2-18
sanders_11_ASD_discovery_controls-11266.s1
Unknown
Simplex (quad)
NA
IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11
sanders_11_ASD_discovery_controls-11318.s1
Unknown
Simplex (quad)
NA
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
sanders_11_ASD_discovery_controls-11329.s1
Unknown
Simplex (quad)
NA
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-4,IGKV2-18
sanders_11_ASD_discovery_controls-11356.s1
Unknown
Simplex (quad)
NA
LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
sanders_11_ASD_discovery_controls-11447.s1
Unknown
Simplex (quad)
NA
IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV1D-8,IGKV3D-7,IGKV2D-29,IGKV1D-43,IGKV1D-33,IGKV2-18
sanders_11_ASD_discovery_controls-11519.s1
Unknown
Simplex (quad)
NA
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
sanders_11_ASD_discovery_controls-11532.s1
Maternal
Simplex (quad)
NA
MIR4771-1,LINC01955
sanders_11_ASD_discovery_controls-11542.s1
Paternal
Simplex (quad)
NA
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
sanders_11_ASD_discovery_controls-11644.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11666.s1
Maternal
Simplex (quad)
NA
MIR4771-1,LINC01955,IGKV3OR2-268,MIR4435-1,LINC01943,CYTOR
sanders_11_ASD_discovery_controls-11909.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11989.s1
Paternal
Simplex (quad)
NA
MIR4771-1,LINC01955,IGKV3OR2-268,LINC01943,CYTOR
sanders_11_ASD_discovery_controls-12076.s1
Unknown
Simplex (quad)
NA
MIR4771-1
sanders_11_ASD_discovery_controls-12356.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12441.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12597.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12704.s1
Unknown
Simplex (quad)
NA
MIR4771-1,LINC01955
sanders_11_ASD_discovery_controls-12723.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12984.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13083.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13251.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13301.s1
Paternal
Simplex (quad)
NA
LINC01943,CYTOR
No Animal Model Data Available