11q11CNV Type: Deletion-Duplication
Largest CNV size: 270417 bp
Statistics Box:
Number of Reports: 18
Number of Reports: 18
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Deletion
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Deletion-Duplication
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion-Duplication
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
davis_12_ASD_discovery_cases
Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago
1
Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.
12 yrs.
Male
79538
1
0
1
fan_18_DD/ID_discovery_cases
Individuals from unrelated families presenting with de novo 14q32.2 deletions affecting the CCNK gene
3
All three cases presented with severe to extremely severe developmental delay/intellectual disability (DD/ID) with profounds delays in language and social communication; two cases also presented with autistic behaviors
Range, 4-9 yrs.
33.33% Male
78978
1
0
1
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
45051
0
1
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.
118950
130
1
131
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
121038
106
2
108
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
893411
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
93969
64
10
74
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
41984
0
2
2
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
109000
1
0
1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
84869
1
3
4
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)
496542
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
11378
0
1
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
546199
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
270417
60
71
131
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
86308
1
0
1
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
102172
0
1
1
shen_10b_ASD_discovery_cases
Father and son from a three-generation Chinese family with ASD and language delay.
2
Diagnosis of ASD based upon DSM-IV criteria.
Range, 12-41 yrs.
100% Male
82575
0
1
1
tabet_12_ASD_discovery_cases
Three affected siblings from an autism multiplex family born to non-consanguineous parents.
3
Autism. Diagnosis based on ADI-R, ADOS, and CARS evaluations.
Range, 17 yrs. 6 mos.-21 yrs.
100% Male
24549
2
0
2
vaags_11_ASD_replication_cases_2
Replication cohort consisting of patients referred to the Mayo Clinic
1796
Autism or pervasive developmental disorder (PDD)
NA
NA
82635
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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.
128192
119
0
119
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
164149
98
4
102
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
180457
2
6
8
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
162988
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
285432
50
3
53
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
41984
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
339860
1
1
2
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)
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
11378
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.
515002
57
67
124
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
davis_12_ASD_discovery_cases
NA
Solid phase hybridization
Illumina Human 1M-Duo DNA Analysis Bead Chip
PennCNV, QuantiSNP, Gnosis
CNVision
None
fan_18_DD/ID_discovery_cases
Chinese
Array SNP, solid phase hybridization
Affymetrix CytoScan HD, Illumina HumanCytoSNP-12
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
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
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
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_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
sato_12_ASD_discovery_cases_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
shen_10b_ASD_discovery_cases
Chinese
aCGH
Agilent 244K
DNA Analytics
tabet_12_ASD_discovery_cases
Mixed ethnic background (father Caucasian, mother from Mauritius)
Solid phase hybridization
Illumina HumanCNV370-Duo BeadChip
CNVPartition v3.1.1, Penn CNV
BeadStudio v3.2
None
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_11_ASD_discovery_controls
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_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_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)
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
davis_12_ASD_discovery_cases-case1
12 yrs.
M
Autism
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Vineland adaptive behavior scale, 98 (45th %ile).
55600413
55679951
79539
GRCh38
Deletion
No
fan_18_DD/ID_discovery_cases-subject1
4 yrs.
M
Developmental delay/intellectual disability and autistic features
Developmental milestones: moderately delayed gross motor skill development, severely delayed fine motor skill development, extremely severe delays in language development and social communication development, severe delays in adaptivity. Language and communication evaluation: absent speech (language ability equivalent to 6 months). Behavioral/psychiatric evaluation: autistic behaviors. Dysmorphic features: hypertelorism, thin eyebrows, dysmorphic ears, high anterior hairline, palpebral fissures, broad nasal bridge and tip, thick nasal alae, long philtrum, thin upper lip vermillion, narrow jaw. Growth parameters: height normal, weight 90th-97th %ile, head circumference +1 SD ~ +2 SD.
Severe intellectual disability
55606542
55685520
78979
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000005
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S8
N/A
55265276
55310327
45052
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si101
7
M
Autism
ADOS score: 7. Vineland composite score: 66.
Severe mental retardation/intellectual disability. Full-scale IQ, 39; Verbal IQ, 30; Non-verbal IQ, 48.
55605988
55685410
79423
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si102
9
M
Autism
ADOS score: 10. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 93; Non-verbal IQ, 92.
55599465
55684021
84557
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si106
17
M
Autism
ADOS score: 9. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 73; Verbal IQ, 52; Non-verbal IQ, 88.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si108
8
F
Autism
ADOS score: 9. Vineland composite score: 87.
No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 98; Non-verbal IQ, 97.
55599465
55697754
98290
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si116
7
M
Autism
ADOS score: 10. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 88; Non-verbal IQ, 100.
55599465
55697754
98290
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si117
10
M
Autism
ADOS score: 9. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 86; Non-verbal IQ, 78.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si120
7
F
Autism
ADOS score: 10. Vineland composite score: 63.
No mental retardation/intellectual disability. Full-scale IQ, 72; Verbal IQ, 76; Non-verbal IQ, 75.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si123
11
M
Autism
ADOS score: 7. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 73; Verbal IQ, 87; Non-verbal IQ, 68.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si124
14
M
Autism
ADOS score: 6. Vineland composite score: 67.
No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 77; Non-verbal IQ, 105.
55607393
55685410
78018
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si125
10
M
Autism
ADOS score: 8. Vineland composite score: 89.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 117; Non-verbal IQ, 111.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si129
6
M
Autism
ADOS score: 9. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 61; Verbal IQ, 58; Non-verbal IQ, 64.
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si131
10
M
Autism
ADOS score: 10. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 82; Non-verbal IQ, 74.
55577493
55685410
107918
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si132
16
F
Autism
ADOS score: NA. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 117; Non-verbal IQ, 113.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si136
8
M
Autism
ADOS score: 6. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 75; Non-verbal IQ, 95.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si138
9
M
Autism
ADOS score: 9. Vineland composite score: 69.
Mild mental retardation/intellectual disability. Full-scale IQ, 65; Verbal IQ, 59; Non-verbal IQ, 74.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si139
12
M
Autism
ADOS score: 8. Vineland composite score: 69.
Moderate mental retardation/intellectual disability. Full-scale IQ, 50; Verbal IQ, 62; Non-verbal IQ, 44.
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si140
12
M
Autism
ADOS score: 10. Vineland composite score: 64.
No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 84; Non-verbal IQ, 71.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si142
6
M
Autism
ADOS score: 4. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 117; Non-verbal IQ, 99.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si149
13
M
Autism
ADOS score: 8. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 131; Non-verbal IQ, 112.
55573260
55692210
118951
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si15
14
M
Autism
ADOS score: 4. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 86; Non-verbal IQ, 109.
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si150
9
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.
55260843
55368063
107221
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si151
8
F
Autism
ADOS score: 7. Vineland composite score: 50.
Severe mental retardation/intellectual disability. Full-scale IQ, 30; Verbal IQ, 18; Non-verbal IQ, 42.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si165
14
M
Autism
ADOS score: 8. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 98; Non-verbal IQ, 127.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si17
9
M
Autism
ADOS score: 7. Vineland composite score: 91.
No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 100.
55593303
55692210
98908
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si173
10
M
Autism
ADOS score: 7. Vineland composite score: 75.
No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 67; Non-verbal IQ, 82.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si176
14
M
Autism
ADOS score: 9. Vineland composite score: 52.
Severe mental retardation/intellectual disability. Full-scale IQ, 26; Verbal IQ, 20; Non-verbal IQ, 29.
55573260
55685410
112151
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.
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si18
13
M
Autism
ADOS score: 9. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 106; Non-verbal IQ, 91.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si182
9
M
Autism
ADOS score: 8. Vineland composite score: 62.
No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 60; Non-verbal IQ, 92.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si183
13
M
Autism
ADOS score: 7. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 73; Non-verbal IQ, 102.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si184
10
M
Autism
ADOS score: 10. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 77; Non-verbal IQ, 105.
55573260
55685410
112151
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si185
11
M
Autism
ADOS score: 6. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 89; Non-verbal IQ, 90.
55577493
55685410
107918
GRCh38
Deletion
No
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.
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si187
9
M
Autism
ADOS score: 8. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 87; Verbal IQ, 74; Non-verbal IQ, 105.
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si188
9
M
Autism
ADOS score: 7. Vineland composite score: 91.
No mental retardation/intellectual disability. Full-scale IQ, 135; Verbal IQ, 134; Non-verbal IQ, 128.
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si189
9
F
Autism
ADOS score: 10. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 99; Non-verbal IQ, 119.
55599465
55697754
98290
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si19
8
M
Autism
ADOS score: 6. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 101; Non-verbal IQ, 95.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si191
12
M
Autism
ADOS score: 7. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 108; Non-verbal IQ, 102.
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si193
8
M
Autism
ADOS score: 8. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 84; Non-verbal IQ, 106.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si194
9
M
Autism
ADOS score: 10. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 92; Verbal IQ, 104; Non-verbal IQ, 87.
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si195
12
M
Autism
ADOS score: 10. Vineland composite score: 58.
Severe mental retardation/intellectual disability. Full-scale IQ, 39; Verbal IQ, 26; Non-verbal IQ, 45.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si197
15
M
Autism
ADOS score: 9. Vineland composite score: 57.
Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 35; Non-verbal IQ, 34.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si198
10
M
Autism
ADOS score: 7. Vineland composite score: 103.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 105; Non-verbal IQ, 103.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si200
10
M
Autism
ADOS score: 8. Vineland composite score: 91.
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 44; Non-verbal IQ, 63.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si202
14
M
Autism
ADOS score: 4. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 120; Verbal IQ, 123; Non-verbal IQ, 115.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si204
9
M
Autism
ADOS score: 7. Vineland composite score: 67.
Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 43; Non-verbal IQ, 44.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si208
14
M
Autism
ADOS score: 4. Vineland composite score: 61.
No mental retardation/intellectual disability. Full-scale IQ, 117; Verbal IQ, 84; Non-verbal IQ, 132.
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si209
13
M
Autism
ADOS score: 6. Vineland composite score: 90.
No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 120; Non-verbal IQ, 128.
55599465
55692210
92746
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.
55573260
55685410
112151
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si210
16
M
Autism
ADOS score: 8. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 95; Non-verbal IQ, 87.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si219
9
M
Autism
ADOS score: 8. Vineland composite score: 101.
No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 118; Non-verbal IQ, 128.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si220
8
M
Autism
ADOS score: 8. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 95; Non-verbal IQ, 89.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si223
19
F
Autism
ADOS score: NA. Vineland composite score: 59.
No mental retardation/intellectual disability. Full-scale IQ, 120; Verbal IQ, 121; Non-verbal IQ, 125.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si224
11
M
Autism
ADOS score: 10. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 69; Non-verbal IQ, 88.
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si227
7
M
Autism
ADOS score: 8. Vineland composite score: 63.
Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 38; Non-verbal IQ, 57.
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si228
10
M
Autism
ADOS score: 10. Vineland composite score: 96.
No mental retardation/intellectual disability. Full-scale IQ, 99; Verbal IQ, 89; Non-verbal IQ, 107.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si229
11
F
Autism
ADOS score: 9. Vineland composite score: 69.
Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 45; Non-verbal IQ, 67.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si231
9
M
Autism
ADOS score: 6. Vineland composite score: 93.
No mental retardation/intellectual disability. Full-scale IQ, 117; Verbal IQ, 111; Non-verbal IQ, 117.
55599535
55692210
92676
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si232
7
M
Autism
ADOS score: 8. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 88; Non-verbal IQ, 71.
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si237
13
M
Autism
ADOS score: 6. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 102; Verbal IQ, 104; Non-verbal IQ, 108.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si24
14
F
Autism
ADOS score: 10. Vineland composite score: 87.
No mental retardation/intellectual disability. Full-scale IQ, 82; Verbal IQ, 102; Non-verbal IQ, 74.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si243
12
M
Autism
ADOS score: 10. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 83; Non-verbal IQ, 96.
55573260
55685410
112151
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si25
13
M
Autism
ADOS score: 7. Vineland composite score: 61.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 90; Non-verbal IQ, 84.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si251
16
M
Autism
ADOS score: 10. Vineland composite score: 59.
Mild mental retardation/intellectual disability. Full-scale IQ, 64; Verbal IQ, 31; Non-verbal IQ, 89.
55573260
55685410
112151
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si258
12
M
Autism
ADOS score: 6. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 80; Non-verbal IQ, 74.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si259
12
M
Autism
ADOS score: 9. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 132; Verbal IQ, 119; Non-verbal IQ, 137.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si26
8
M
Autism
ADOS score: 6. Vineland composite score: 92.
No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 106; Non-verbal IQ, 109.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si261
11
M
Autism
ADOS score: 8. Vineland composite score: 80.
Mild mental retardation/intellectual disability. Full-scale IQ, 69; Verbal IQ, 67; Non-verbal IQ, 73.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si263
11
M
Autism
ADOS score: 6. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 121; Non-verbal IQ, 117.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si266
13
M
Autism
ADOS score: 7. Vineland composite score: 55.
Moderate mental retardation/intellectual disability. Full-scale IQ, 52; Verbal IQ, 37; Non-verbal IQ, 59.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si267
11
M
Autism
ADOS score: 7. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 91; Non-verbal IQ, 89.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si27
17
M
Autism
ADOS score: 7. Vineland composite score: 65.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 93; Non-verbal IQ, 110.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si270
12
M
Autism
ADOS score: 6. Vineland composite score: 76.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 96; Non-verbal IQ, 109.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si275
15
M
Autism
ADOS score: 7. Vineland composite score: 77.
No mental retardation/intellectual disability. Full-scale IQ, 118; Verbal IQ, 130; Non-verbal IQ, 109.
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si279
19
M
Autism
ADOS score: NA. Vineland composite score: 64.
No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 128; Non-verbal IQ, 101.
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si284
11
M
Autism
ADOS score: 9. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 106; Non-verbal IQ, 92.
55573260
55685410
112151
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si288
12
M
Autism
ADOS score: 9. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 93; Non-verbal IQ, 83.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si289
9
M
Autism
ADOS score: 7. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 89; Verbal IQ, 88; Non-verbal IQ, 91.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si292
14
M
Autism
ADOS score: 9. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 100; Non-verbal IQ, 105.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si301
6
M
Autism
ADOS score: 6. Vineland composite score: 59.
Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 32; Non-verbal IQ, 49.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si304
12
M
Autism
ADOS score: 7. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 76; Verbal IQ, 48; Non-verbal IQ, 94.
55615690
55685410
69721
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si305
7
M
Autism
ADOS score: 8. Vineland composite score: 70.
Severe mental retardation/intellectual disability. Full-scale IQ, 31; Verbal IQ, 22; Non-verbal IQ, 40.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si307
15
M
Autism
ADOS score: 9. Vineland composite score: 70.
No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 96; Non-verbal IQ, 111.
55586709
55692210
105502
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si31
18
M
Autism
ADOS score: 9. Vineland composite score: 56.
Profound mental retardation/intellectual disability. Full-scale IQ, 18; Verbal IQ, 19; Non-verbal IQ, 19.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si310
10
M
Autism
ADOS score: 9. Vineland composite score: 66.
Mild mental retardation/intellectual disability. Full-scale IQ, 63; Verbal IQ, 61; Non-verbal IQ, 70.
55573260
55685410
112151
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si316
10
F
Autism
ADOS score: 7. Vineland composite score: 92.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 122; Non-verbal IQ, 90.
55586709
55685410
98702
GRCh38
Deletion
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.
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si318
12
M
Autism
ADOS score: 7. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 89; Non-verbal IQ, 80.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si319
12
M
Autism
ADOS score: 8. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 93; Non-verbal IQ, 92.
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si32
7
M
Autism
ADOS score: 6. Vineland composite score: 100.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 85; Non-verbal IQ, 115.
55599465
55692210
92746
GRCh38
Deletion
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.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si325
9
M
Autism
ADOS score: 8. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 66; Verbal IQ, 58; Non-verbal IQ, 75.
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si329
15
M
Autism
ADOS score: 8. Vineland composite score: 66.
Moderate mental retardation/intellectual disability. Full-scale IQ, 43; Verbal IQ, 27; Non-verbal IQ, 59.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si33
19
M
Autism
ADOS score: NA. Vineland composite score: 89.
No mental retardation/intellectual disability. Full-scale IQ, 116; Verbal IQ, 114; Non-verbal IQ, 115.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si34
10
M
Autism
ADOS score: 10. Vineland composite score: 74.
Moderate mental retardation/intellectual disability. Full-scale IQ, 55; Verbal IQ, 63; Non-verbal IQ, 55.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si341
17
F
Autism
ADOS score: 7. Vineland composite score: 45.
Profound mental retardation/intellectual disability. Full-scale IQ, 23; Verbal IQ, 18; Non-verbal IQ, 26.
55635166
55685410
50245
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si344
15
M
Autism
ADOS score: 6. Vineland composite score: 52.
Severe mental retardation/intellectual disability. Full-scale IQ, 31; Verbal IQ, 28; Non-verbal IQ, 33.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si348
17
M
Autism
ADOS score: 10. Vineland composite score: 67.
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 50; Non-verbal IQ, 104.
55593303
55692210
98908
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si349
19
M
Autism
ADOS score: NA. Vineland composite score: 71.
No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 128; Non-verbal IQ, 100.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si35
17
M
Autism
ADOS score: 8. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 96; Non-verbal IQ, 98.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si350
7
M
Autism
ADOS score: 6. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 115; Non-verbal IQ, 93.
55599465
55697754
98290
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si36
9
M
Autism
ADOS score: 6. Vineland composite score: 66.
Mild mental retardation/intellectual disability. Full-scale IQ, 67; Verbal IQ, 40; Non-verbal IQ, 87.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si37
10
M
Autism
ADOS score: 8. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 115; Non-verbal IQ, 129.
55573260
55685410
112151
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si39
11
F
Autism
ADOS score: 10. Vineland composite score: 63.
Moderate mental retardation/intellectual disability. Full-scale IQ, 52; Verbal IQ, 46; Non-verbal IQ, 62.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si40
16
M
Autism
ADOS score: 7. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 82; Non-verbal IQ, 77.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si46
6
F
Autism
ADOS score: 10. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 94; Non-verbal IQ, 100.
55586709
55685410
98702
GRCh38
Deletion
Yes
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.
55573260
55685410
112151
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si51
12
M
Autism
ADOS score: 7. Vineland composite score: 95.
No mental retardation/intellectual disability. Full-scale IQ, 127; Verbal IQ, 113; Non-verbal IQ, 129.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si52
7
M
Autism
ADOS score: 9. Vineland composite score: 74.
No mental retardation/intellectual disability. Full-scale IQ, 72; Verbal IQ, 76; Non-verbal IQ, 75.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si55
18
M
Autism
ADOS score: 8. Vineland composite score: 64.
No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 86; Non-verbal IQ, 92.
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si59
7
F
Autism
ADOS score: NA. Vineland composite score: NA
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si6
7
M
Autism
ADOS score: 8. Vineland composite score: 79.
Mild mental retardation/intellectual disability. Full-scale IQ, 70; Verbal IQ, 62; Non-verbal IQ, 79.
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si62
10
M
Autism
ADOS score: 8. Vineland composite score: 60.
Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 15; Non-verbal IQ, 49.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si63
11
M
Autism
ADOS score: 9. Vineland composite score: 71.
No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 81; Non-verbal IQ, 106.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si65
11
M
Autism
ADOS score: 7. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 96; Non-verbal IQ, 74.
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si68
16
M
Autism
ADOS score: 6. Vineland composite score: 82.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 90.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si70
10
M
Autism
ADOS score: 8. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 118; Non-verbal IQ, 111.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si71
15
M
Autism
ADOS score: 5. Vineland composite score: 96.
No mental retardation/intellectual disability. Full-scale IQ, 127; Verbal IQ, 128; Non-verbal IQ, 124.
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si72
17
M
Autism
ADOS score: 5. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 89; Non-verbal IQ, 102.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si73
16
M
Autism
ADOS score: 9. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 83; Non-verbal IQ, 108.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si74
13
M
Autism
ADOS score: 9. Vineland composite score: 60.
Mild mental retardation/intellectual disability. Full-scale IQ, 60; Verbal IQ, 51; Non-verbal IQ, 66.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si80
6
M
Autism
ADOS score: 6. Vineland composite score: 85.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 87; Non-verbal IQ, 95.
55599465
55684021
84557
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si81
7
M
Autism
ADOS score: 8. Vineland composite score: 70.
Mild mental retardation/intellectual disability. Full-scale IQ, 61; Verbal IQ, 38; Non-verbal IQ, 73.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si82
14
M
Autism
ADOS score: 4. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 104; Non-verbal IQ, 100.
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si83
12
M
Autism
ADOS score: 10. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 41; Verbal IQ, 40; Non-verbal IQ, 41.
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si86
17
F
Autism
ADOS score: 10. Vineland composite score: 53.
Severe mental retardation/intellectual disability. Full-scale IQ, 26; Verbal IQ, 19; Non-verbal IQ, 29.
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si88
7
F
Autism
ADOS score: 5. Vineland composite score: 83.
No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 91; Non-verbal IQ, 94.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si91
11
F
Autism
ADOS score: 8. Vineland composite score: 64.
Severe mental retardation/intellectual disability. Full-scale IQ, 36; Verbal IQ, 36; Non-verbal IQ, 36.
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si92
6
M
Autism
ADOS score: 4. Vineland composite score: 86.
No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 98; Non-verbal IQ, 123.
55599465
55697754
98290
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si95
8
M
Autism
ADOS score: 5. Vineland composite score: 73.
No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 98; Non-verbal IQ, 112.
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_cases-Si96
15
M
Autism
ADOS score: 9. Vineland composite score: 58.
Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 58; Non-verbal IQ, 55.
55599535
55685410
85876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-11107107914
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-12210113025
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-12308109510
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-13107107988
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-14307108019
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-14909111141
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-15008109638
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-15508109664
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-16708109743
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-16909111203
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-1709110692
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-17609111227
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-19305103869
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-19405103174
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55586709
55685410
98702
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-20207108119
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-20909111311
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-21009111337
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-21707108167
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-21907108174
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-22004100624
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-22505104145
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-23204100689
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-23404100705
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-23807108268
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-24705103861
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-25105101983
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-25807108397
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-27008110148
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-28208110205
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-28407108602
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-28504101060
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-28506106267
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-29007108475
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55572408
55685410
113003
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-29008110245
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55573260
55685410
112151
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-29309111573
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
55586709
55685410
98702
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-29905103852
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-29909111597
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-3007107649
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-30208110271
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599728
55664018
64291
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-30408110274
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55573260
55685410
112151
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-30708110281
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-31705108575
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-31906106492
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-33608110351
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-33906106436
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-3407107669
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
55573260
55685410
112151
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-35408110434
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
55599465
55697754
98290
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-35508110435
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
55577493
55674312
96820
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-36006106625
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-3605102633
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55593303
55692210
98908
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-36805104915
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-36904100666
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-36907108784
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-37909111873
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-38905103540
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
55614165
55685410
71246
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-39104101431
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-40008110627
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-40208110630
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-41005104435
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-4105102663
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-4106105419
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
55573260
55685410
112151
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-41206106842
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-41504101477
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-42506106873
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-42805103614
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-43405103622
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-44106106924
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55586709
55692210
105502
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-45309112087
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55573260
55685410
112151
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-47009112005
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
55599465
55697754
98290
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-47404100574
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55564372
55685410
121039
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-47604101025
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-48204101197
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-50104101765
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-50905104265
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-51206107184
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-52104101908
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55586709
55685410
98702
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-52904101932
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-53205104341
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-54304102048
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-54605104376
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-55104100200
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-57505104500
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-57804101558
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-60504102200
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55697754
98290
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-60704102209
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-60705104612
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-607107598
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-6103100278
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-61204102229
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-6208109266
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-63004102748
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55684021
84557
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-63204102829
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-63205104572
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-67204102376
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-67804102406
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
55599465
55684021
84557
GRCh38
Deletion
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
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-7806105460
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-7905103425
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55572408
55692210
119803
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-8203100466
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
55599535
55692210
92676
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-8205102886
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-8305102889
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-8405102790
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-8905102822
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-907107601
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9105102949
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9305102846
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
55573260
55685410
112151
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9405102860
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9805103469
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001278
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
55319519
56212930
893412
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11000.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11031.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11045.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55666096
62657
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11051.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11108.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11118.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11120.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11164.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11172.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55572127
55648209
76083
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11241.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11267.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55572127
55666096
93970
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11398.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11437.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11458.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11465.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11471.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11498.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11575.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11630.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11642.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11775.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11810.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11828.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11846.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11863.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55648209
44770
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11920.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11924.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11995.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12011.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12044.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12091.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12212.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12271.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12308.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12381.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12417.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12437.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12440.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12444.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12548.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12603.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12656.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12740.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12780.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12794.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12892.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12916.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12930.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12976.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13135.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13197.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13382.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13478.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13523.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13527.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13552.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13572.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13614.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13653.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13673.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13678.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13757.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13764.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13825.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13833.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13878.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13880.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14180.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14201.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14267.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14280.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14407.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55648209
44770
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14425.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14438.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
55603440
55651839
48400
GRCh38
Deletion
Yes
larson_17_ASD_discovery_cases-case82
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
55855950
55897934
41985
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case83
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
55855950
55897934
41985
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam1176Proband10539
N/A
M
ASD
Additional clinical profile info N/A
ID
56354581
56464058
109478
GRCh38
Deletion
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
N/A
M
Developmental delay
Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: displayed neurodevelopmental delay at 1 year. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: self-injurious behavior. Family history: paternal uncle diagnosed with Asperger syndrome.
Developmental delay (TIQ score of 54)
55610434
55683312
72879
GRCh38
Duplication
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient4
N/A
M
ASD and intellectual disability
Case met criteria for ASD diagnosis, exceeding ADOS and ADI thresholds in all areas. Developmental milestones: motor delay; language delay. Behavioral/psychiatric evaluation: depressed mood. Brain imaging: cerebral venous malformation detected on brain MRI. Family history: brother of maternal grandfather affected by intellectual disability; maternal grandmother affected by thyroid cancer.
Moderate cognitive impairment (TIQ score of 41)
55605277
55685547
80271
GRCh38
Duplication
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient5
N/A
F
Intellectual disability and ADHD
Developmental milestones: motor delay; language delay. Motor and musculoskeletal evaluation: dyspraxia; strabismus. Behavioral/psychiatric evaluation: ADHD; some stereotypic behaviors. Brain imaging: delayed myelination detected on brain MRI. Family history: mild cognitive impairment and langauge delay in the father's cousin's daughter; sister of his maternal grandmother developed a brain tumor.
Mild intellectual disability (Leiter-R IQ score of 60)
55600678
55685547
84870
GRCh38
Duplication
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
N/A
M
ASD and intellectual disability
Case met diagnostic criteria for ASD with both ADOS and ADI scores falling into the autism spectrum range. Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: normal motor development; delay in expressive language. Behavioral/psychiatric evaluation: anxiety; OCD; attention deficit disorder (ADD). Family history: mother suffers from major depression, psoriasis, and eating disorder; father's family includes one case of intellectual disability, a paternal grandmother affected by depression and autoimmune thyroiditis, and a paternal uncle diagnosed with OCD.
Mild intellectual disability (TIQ score of 64); memory impairment
55610434
55683312
72879
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case00HI1663A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU056708; NDAR ID NDAR_INVAC801FDF)
55343199
55839740
496542
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case71920
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
56023454
56034831
11378
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-131
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
55315958
55862156
546199
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11000.p1
9.2
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 78; verbal IQ, 50
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11006.p1
7.3
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 99
55176099
55214931
38833
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
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11037.p1
9.3
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 86; verbal IQ, 83
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11039.p1
6.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 43; verbal IQ 29
55156733
55214931
58199
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11047.p1
10.4
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 74; verbal IQ, 36
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11048.p1
6.5
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11050.p1
5.7
F
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 95; verbal IQ 104
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11052.p1
5.5
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 97; verbal IQ, 90
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11055.p1
12.2
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 19
55176099
55239058
62960
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11059.p1
6.6
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 103; verbal IQ, 119
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11069.p1
9.5
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 96; verbal IQ, 83
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11075.p1
6.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 54; verbal IQ, 24
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11077.p1
12.2
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 36; verbal IQ, 26
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11079.p1
11.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11083.p1
8.8
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 122
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11096.p1
13.6
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 95
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11122.p1
7.8
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11124.p1
11.1
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11128.p1
11.4
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 32; verbal IQ 35
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11135.p1
6.3
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11141.p1
6.7
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11148.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 82; verbal IQ, 99
55176099
55201190
25092
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11159.p1
12.9
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 109; verbal IQ, 130
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11176.p1
12.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11193.p1
7.5
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
55125495
55214931
89437
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11197.p1
10.1
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 110
55176099
55201190
25092
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11198.p1
11.9
M
Autism
NA
Full-scale IQ, 120; non-verbal IQ, 115; verbal IQ, 123
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11201.p1
8.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 78; verbal IQ, 44
55026761
55214931
188171
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11208.p1
14.4
F
Autism
NA
Full-scale IQ, 141; non-verbal IQ, 128; verbal IQ, 149
55167087
55214931
47845
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
55146357
55214931
68575
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11218.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 119; verbal IQ, 98
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11235.p1
6.8
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 97; verbal IQ, 105
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11265.p1
14.3
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 98; verbal IQ, 120
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11274.p1
11.6
F
ASD
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 107
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11289.p1
6
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11310.p1
11
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 97; verbal IQ, 63
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11312.p1
10
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 109; verbal IQ, 96
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11321.p1
17.7
M
Autism
NA
Full-scale IQ, 12; non-verbal IQ, 17; verbal IQ, 7
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11328.p1
7.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 81
55176099
55201190
25092
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11346.p1
11
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 132; verbal IQ, 121
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11350.p1
9.1
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 92; verbal IQ, 93
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11353.p1
5.3
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 77; verbal IQ, 64
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11356.p1
11.5
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 72; verbal IQ, 77
55176099
55201190
25092
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11374.p1
8.8
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 112; verbal IQ, 120
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11378.p1
9.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 91; verbal IQ, 48
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11379.p1
5.8
F
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 65; verbal IQ, 78
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11381.p1
5.6
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 89; verbal IQ, 68
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11382.p1
6.4
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 70; verbal IQ, 94
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11394.p1
5.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
55187440
55239058
51619
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11399.p1
11.9
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 100
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11404.p1
7.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 82
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11424.p1
6.8
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 97; verbal IQ, 90
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11436.p1
4.8
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11444.p1
16.3
F
Aspergers
NA
Full-scale IQ, 120; non-verbal IQ, 125; verbal IQ, 121
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11452.p1
8.5
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 80; verbal IQ, 85
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11453.p1
8.8
M
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11455.p1
7.6
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 69
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11463.p1
7.6
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 98; verbal IQ, 79
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11466.p1
9.2
M
Aspergers
NA
Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11471.p1
13.9
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 89; verbal IQ, 31
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11472.p1
13.7
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11479.p1
6
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 137; verbal IQ, 119
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11484.p1
10.8
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 104
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11498.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 102; verbal IQ, 110
54944514
55214931
270418
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11501.p1
11.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 71
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11504.p1
8.2
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 108; verbal IQ, 119
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11520.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 77; verbal IQ, 57
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11545.p1
7.9
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 114; verbal IQ, 83
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11551.p1
15.5
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
55176099
55214931
38833
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
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
56555931
56584941
29011
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11575.p1
11.8
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 105; verbal IQ, 100
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11597.p1
12.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11599.p1
6.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 99
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11600.p1
14.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 112; verbal IQ, 99
55160996
55239058
78063
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11659.p1
6.4
F
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 89; verbal IQ, 94
55176099
55239058
62960
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11666.p1
7.7
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 51; verbal IQ, 51
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11667.p1
5
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 56; verbal IQ, 51
55176099
55239058
62960
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11677.p1
7.9
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11691.p1
14.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
55176099
55239058
62960
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11711.p1
5.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
55176099
55239058
62960
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11718.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 108
55096451
55239058
142608
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11740.p1
11.7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 89; verbal IQ, 115
55176099
55239058
62960
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11828.p1
5.5
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 89; verbal IQ, 56
55026761
55214931
188171
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11857.p1
6.7
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 101; verbal IQ, 96
55035245
55098888
63644
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11878.p1
9.5
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 94
56660176
56676662
16487
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11893.p1
8.3
F
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 49; verbal IQ, 30
55146357
55239058
92702
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11924.p1
7.6
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 105; verbal IQ, 74
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11942.p1
10.3
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 44; verbal IQ, 62
55026761
55214931
188171
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11984.p1
5
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 88
55176099
55239058
62960
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
55176099
55239058
62960
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12031.p1
13.5
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 108; verbal IQ, 133
55176099
55239058
62960
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12077.p1
10.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
55176099
55239058
62960
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12087.p1
5.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 108
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
55013081
55047516
34436
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12202.p1
11.3
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
55187440
55239058
51619
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12232.p1
7.7
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 74; verbal IQ, 51
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12255.p1
4.1
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 87
55187440
55239058
51619
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12312.p1
5.5
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 80; verbal IQ, 70
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12327.p1
14.6
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 108; verbal IQ, 83
55176099
55239058
62960
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12343.p1
6.2
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12349.p1
4.9
M
ASD
NA
Full-scale IQ, 81; non-verbal IQ, 81; verbal IQ, 90
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12351.p1
13.6
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 68; verbal IQ, 37
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12366.p1
4
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 111; verbal IQ, 97
55176099
55239058
62960
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12376.p1
12.2
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 104
55176099
55239058
62960
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12395.p1
5.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 81
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12448.p1
10.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 116
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12512.p1
8.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 82; verbal IQ, 95
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12575.p1
17
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 98; verbal IQ, 109
55176099
55239058
62960
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12596.p1
4.9
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 89; verbal IQ, 32
55161011
55214931
53921
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12614.p1
6.1
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
55176099
55258684
82586
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12631.p1
17.2
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 76
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12667.p1
6.3
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 49; verbal IQ, 19
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12785.p1
7.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
55160996
55214931
53936
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12790.p1
7.9
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 44; verbal IQ, 18
55176099
55194056
17958
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12792.p1
7.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 107
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12852.p1
5.1
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 83
55176099
55194056
17958
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12871.p1
16.5
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ, 59
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12972.p1
10.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
56555931
56584941
29011
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12975.p1
10.4
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
55176099
55259170
83072
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13007.p1
13.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 107; verbal IQ, 67
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13016.p1
5.5
M
Aspergers
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
55176099
55239058
62960
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13073.p1
4.8
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 60; verbal IQ, 25
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13076.p1
6.7
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
56236113
56291214
55102
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13152.p1
7.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 78
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
55176099
55214931
38833
GRCh38
Duplication
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
55599467
55685774
86308
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).
55593962
55696133
102172
GRCh38
Duplication
No
shen_10b_ASD_discovery_cases-caseII:5
41 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
IQ not tested; significant childhood learning disability
55124730
55207305
82575
Unknown
Duplication
No
tabet_12_ASD_discovery_cases-patient1
21 yrs.
M
Autism
Clinical diagnosis of autism. ADI-R evaluation (at 5 yrs. 1 mo): social score, 17; communication score, 14 (non-verbal); repetitive behavior score, 7; onset score, 5; diagnosis of autism. VABS II evaluation (at 5 yrs. 2 mos.): communication, 13; daily living, 20; socialization, 15; maladaptive behaviors, 38. Developmental milestones: early normal development; walked at 15 months; severely delayed speech (1st words at 10 yrs.); expressive language limited to restrictive sentences (equivalent to developmental age of 4 yrs). Other behaviors: hyperactivity, motor stereotypies (flapping), noise intolerance, sleep disturbances. Neurological evaluation: normal. Brain MRI: normal at 5 yrs. Sleep polysomnography showed temporo-occipital & temporo-parietal hypersynchrony with rapid rhythmic waves, but no signficiant epileptic event. Dysmorphic features & malformations: deep-set eyes, thick supra-orbital ridge with thick eyebrows, wide & prominent nasal bridge, receding chin, everted lower lip, extensive acanthosis nigricans. Growth parameters: height, 187 cm (+2.5 SD); weight, 91.5 kg (+4 SD); head circumference, 58.5 cm (+1.5 SD). Family history: monozygotic twin brothers with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
WISC-III IQ scores (at 16 yrs.): full-scale IQ, 47; verbal IQ, 50; performance IQ, 50
55600413
55624962
24550
GRCh38
Deletion
No
tabet_12_ASD_discovery_cases-patient2
17 yrs. 6 mos.
M
Autism
Clinical diagnosis of autism. ADI-R evaluation (at 3 yrs. 2 mos.): social score, 23; communication score, 14 (non-verbal); repetitive behavior, 4; onset, 4; diagnosis of autism. ADOS module 1 evaluation (at 18 yrs. 5 mos.): communication, 6; social interaction, 14; total; 20; play, 4; interesta and behavior, 8; diagnosis of autism. CARS evaluation (at 10 yrs. 3 mos.): composite score of 37; diagnosis of mild-moderate autism. VABS II evaluation (at 18 yrs. 5 mos.): communication, 11; daily living, 23; socialization, 1; maladaptive behaviors, 20. Developmental milestones: normal development followed by regression at 26 mo; language regression at 26 mo; non verbal. Neurological evaluation: hyporeflexia, no motor deficit. Other behaviors: not fully toilet trained, hyperactivity, short and agitated sleep . Brain MRI: white matter hyperintensities, moderate cortical atrophy and thin corpus callosum. Dysmorphic features & malformations: triangular face, broad forehead, prominent orbital ridge, deep set eyes, upslanting palpebral fissures, thick upslant eyebrows, myopia, strabismus, large, prominent nasal bridge, wide, bulbous tip, anteverted nares, everted lower lip, tented philtrum wide cupid's bow, overbite, retrognathia with marked chin, backward tilted ears, ventricular septal defect (VSD), slender habitus, sternum deformity, mild scoliosis, cubitus valgus, long fingers and toes, bilateral single palmar creases and sandal gap. Growth parameters: height, 173 cm (normal range); weight, 49 kg (-2 SD); head circumference, 55 cm (-1 SD). Recurrent infections: recurrent otitis, nose and throat infections in childhood. Family history: monozygotic twin brother with autism; older brother with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
Severe intellectual disability. Ravens Colored Progressive Matrices (RCPM) at 18 yrs 4 mos.: full-scale IQ <1st %ile
55600413
55624962
24550
GRCh38
Deletion
No
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
55600678
55683312
82635
GRCh38
Homozygous duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
girirajan_11_ASD_discovery_controls-NIMH_01
NA
NA
Control
NA
NA
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_100
NA
NA
Control
NA
NA
55573260
55685410
112151
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_103
NA
NA
Control
NA
NA
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_104
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_105
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_107
NA
NA
Control
NA
NA
55573260
55685410
112151
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_109
NA
NA
Control
NA
NA
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_112
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_120
NA
NA
Control
NA
NA
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_121
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_122
NA
NA
Control
NA
NA
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_123
NA
NA
Control
NA
NA
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_132
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_136
NA
NA
Control
NA
NA
55599465
55684021
84557
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_138
NA
NA
Control
NA
NA
55573260
55685410
112151
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_140
NA
NA
Control
NA
NA
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_143
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_146
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_148
NA
NA
Control
NA
NA
55586709
55692210
105502
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_152
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_153
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_154
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_155
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_158
NA
NA
Control
NA
NA
55573260
55685410
112151
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_16
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_161
NA
NA
Control
NA
NA
55573260
55685410
112151
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_162
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_164
NA
NA
Control
NA
NA
55573260
55701452
128193
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_165
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_166
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_167
NA
NA
Control
NA
NA
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_170
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_173
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_175
NA
NA
Control
NA
NA
55593303
55692210
98908
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_178
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_181
NA
NA
Control
NA
NA
55586709
55692210
105502
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_182
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_184
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_185
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_19
NA
NA
Control
NA
NA
55599728
55685410
85683
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_190
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_191
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_192
NA
NA
Control
NA
NA
55586709
55701452
114744
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_193
NA
NA
Control
NA
NA
55572368
55685410
113043
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_195
NA
NA
Control
NA
NA
55573260
55685410
112151
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_196
NA
NA
Control
NA
NA
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_197
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_199
NA
NA
Control
NA
NA
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_201
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_202
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_204
NA
NA
Control
NA
NA
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_205
NA
NA
Control
NA
NA
55599465
55697754
98290
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_206
NA
NA
Control
NA
NA
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_208
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_210
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_217
NA
NA
Control
NA
NA
55599465
55697754
98290
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_219
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_22
NA
NA
Control
NA
NA
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_224
NA
NA
Control
NA
NA
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_228
NA
NA
Control
NA
NA
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_232
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_233
NA
NA
Control
NA
NA
55586709
55701452
114744
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_235
NA
NA
Control
NA
NA
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_239
NA
NA
Control
NA
NA
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_24
NA
NA
Control
NA
NA
55602146
55697754
95609
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_241
NA
NA
Control
NA
NA
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_25
NA
NA
Control
NA
NA
55599535
55685410
85876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_252
NA
NA
Control
NA
NA
55599465
55697754
98290
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_253
NA
NA
Control
NA
NA
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_255
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_256
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_258
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_264
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_273
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_274
NA
NA
Control
NA
NA
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_275
NA
NA
Control
NA
NA
55602146
55692210
90065
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_276
NA
NA
Control
NA
NA
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_279
NA
NA
Control
NA
NA
55586709
55692210
105502
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_280
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_282
NA
NA
Control
NA
NA
55599728
55692210
92483
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_286
NA
NA
Control
NA
NA
55599728
55685410
85683
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_29
NA
NA
Control
NA
NA
55573260
55692210
118951
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_290
NA
NA
Control
NA
NA
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_295
NA
NA
Control
NA
NA
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_296
NA
NA
Control
NA
NA
55573260
55701203
127944
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_297
NA
NA
Control
NA
NA
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_30
NA
NA
Control
NA
NA
55572368
55692210
119843
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_301
NA
NA
Control
NA
NA
55577493
55685410
107918
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_306
NA
NA
Control
NA
NA
55599535
55685410
85876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_307
NA
NA
Control
NA
NA
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_309
NA
NA
Control
NA
NA
55573260
55685410
112151
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_310
NA
NA
Control
NA
NA
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_311
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_316
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_318
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_320
NA
NA
Control
NA
NA
55573260
55685410
112151
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_321
NA
NA
Control
NA
NA
55568706
55685410
116705
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_323
NA
NA
Control
NA
NA
55573260
55697754
124495
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_328
NA
NA
Control
NA
NA
55586709
55685410
98702
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_34
NA
NA
Control
NA
NA
55572368
55685410
113043
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_37
NA
NA
Control
NA
NA
55572368
55685410
113043
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_38
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_48
NA
NA
Control
NA
NA
55599535
55685410
85876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_50
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_71
NA
NA
Control
NA
NA
55599728
55685410
85683
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_75
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_78
NA
NA
Control
NA
NA
55599465
55697754
98290
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_80
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_84
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_85
NA
NA
Control
NA
NA
55628842
55697754
68913
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_86
NA
NA
Control
NA
NA
55603889
55685410
81522
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_88
NA
NA
Control
NA
NA
55599535
55685410
85876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_89
NA
NA
Control
NA
NA
55599465
55701203
101739
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_91
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_92
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_93
NA
NA
Control
NA
NA
55599535
55685410
85876
GRCh38
Deletion
No
girirajan_11_ASD_discovery_controls-NIMH_97
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_11_ASD_discovery_controls-NIMH_99
NA
NA
Control
NA
NA
55599465
55685410
85946
GRCh38
Deletion
Yes
girirajan_13b_ASD_discovery_controls-1008108829
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-10106105795
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-105102427
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-107107567
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-10905103688
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-11206105836
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-11607107933
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55586709
55685410
98702
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-11806105859
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-11910113021
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-12110113024
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-12306105910
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55593303
55692210
98908
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-12508109518
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-12907107979
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-1306105504
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55692210
55856359
164150
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-1306105504
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-13703100328
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-13908109580
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599535
55685410
85876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-14403100350
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-14406105966
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55586709
55685410
98702
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-14710112915
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55586709
55685410
98702
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-1506105511
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-15506105989
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-15607108080
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55573260
55685410
112151
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-16207108108
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-16503100409
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55586709
55685410
98702
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-1707107618
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-17203100441
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-18905103218
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-19807108141
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55586709
55685410
98702
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-20809111324
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-23107108218
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-24809111471
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-24907108358
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-25204100801
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-25205103118
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-25306106253
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-26707108441
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-28304101054
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55586709
55685410
98702
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-28605103511
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-28706106413
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-29005103467
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-29606106442
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-30109111610
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55593303
55685410
92108
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-30705103901
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-30706106486
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-31007108543
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-31207108545
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-31407108557
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55586709
55685410
98702
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-32006106507
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-3208108937
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-32508110343
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-32607108609
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-33006106538
N/A
N/A
Control
Ethnicity: Asian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-33409111730
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-33907108640
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599535
55685410
85876
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-34506106593
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
55602146
55685410
83265
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-34608110415
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-34707108258
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-3506105586
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-35208110427
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-35507108745
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-36607108778
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55663091
63627
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-37205104108
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
55586709
55685410
98702
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-37209111863
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55586709
55685410
98702
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-37904101339
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-38206106769
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55586709
55685410
98702
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-39506106808
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-40706106823
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-40804101794
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55573260
55685410
112151
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-43206106894
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-43806106913
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-46006106980
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-46206106988
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-46806107025
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55586709
55692210
105502
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-48905104181
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-48906107104
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-49206107109
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-49604101726
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55586709
55685410
98702
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-50406107159
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-51406107186
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-52505104317
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-52809112566
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-52909112286
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-56606107560
N/A
N/A
Control
Ethnicity: Asian
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-57305104494
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-59905104552
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55586709
55685410
98702
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-6007107751
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-606105484
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-62704102317
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55692210
92746
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-6505102739
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
55586709
55685410
98702
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-66605104891
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-66705104892
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-67005104902
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-68905105387
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-70005105416
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-7006105686
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-70305105431
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
55635166
55685410
50245
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-70505105438
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-72204103059
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-7907107797
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55599465
55685410
85946
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-8206105715
N/A
N/A
Control
Ethnicity: Caucasian
N/A
55593303
55685410
92108
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-8808109366
N/A
N/A
Control
Ethnicity: Hispanic
N/A
55599465
55685410
85946
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1039
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
54794237
54974693
180457
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1459
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
54794237
54974693
180457
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1502
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
55371021
55392438
21418
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1824
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
55371021
55392438
21418
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1840
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
54892971
54974693
81723
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split799
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
55415016
55442368
27353
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split811
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
54794237
54954916
160680
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split848
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
55381894
55392438
10545
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control13097.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13097. SRS score of 40.
55665166
55828154
162989
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11014.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55648209
44770
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11107.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55811466
55828156
16691
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11164.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11401.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11458.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11775.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11828.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11895.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11920.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11924.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12011.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12091.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12271.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12467.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12548.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12630.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12656.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12664.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12685.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12780.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12853.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12892.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12916.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12923.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12997.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13018.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55572127
55651839
79713
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13097.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55665166
55828154
162989
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13123.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55665166
55828154
162989
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13135.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13203.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13250.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13301.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13302.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55554306
55839738
285433
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13381.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55648209
44770
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13523.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13552.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13572.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13614.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13645.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13697.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13813.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13825.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13855.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13880.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13975.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14086.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14180.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14201.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14202.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14209.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55665166
55828154
162989
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14241.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14280.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14411.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55603440
55651839
48400
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11231.s1
NA
F
Control
NA
NA
55918042
56054783
136742
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11989.s1
NA
F
Control
NA
NA
55114125
55453984
339860
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11009.s1
7.6
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11010.s1
7.7
M
Control (matched sibling)
NA
NA
55156733
55214931
58199
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11017.s1
5.7
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11027.s1
5.8
M
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11029.s1
7.8
M
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11037.s1
6.5
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
55176099
55201190
25092
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11043.s1
11.5
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11047.s1
12.9
F
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11052.s1
7.9
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11055.s1
11.3
F
Control (matched sibling)
NA
NA
55161011
55214931
53921
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11055.s1
11.3
F
Control (matched sibling)
NA
NA
55026761
55103782
77022
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11056.s1
10.6
F
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11057.s1
5.9
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11069.s1
7.4
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11071.s1
20
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11075.s1
9.9
M
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11092.s1
10.5
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11098.s1
5.7
F
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11118.s1
13.4
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11141.s1
5.2
F
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11142.s1
4.5
F
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11159.s1
11.3
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
54944514
55259170
314657
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11176.s1
8.8
F
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11178.s1
5.1
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11179.s1
14.6
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11187.s1
11.1
F
Control (matched sibling)
NA
NA
55167087
55207217
40131
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11190.s1
6.8
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11193.s1
4.8
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11195.s1
11.1
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11207.s1
17.9
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11208.s1
11.4
F
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11215.s1
7.3
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11219.s1
7
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11220.s1
13.6
F
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11224.s1
7.1
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11229.s1
6.1
M
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11254.s1
12.8
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11254.s1
12.8
F
Control (matched sibling)
NA
NA
55385696
55386673
978
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11256.s1
14
M
Control (matched sibling)
NA
NA
54944514
55214931
270418
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11263.s1
15.9
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11266.s1
5.8
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11267.s1
10.3
M
Control (matched sibling)
NA
NA
55167087
55201190
34104
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11289.s1
8
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11304.s1
8.3
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11309.s1
13.6
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11310.s1
9.5
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11327.s1
9.5
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11336.s1
12.9
F
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11349.s1
8.6
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11366.s1
10.8
M
Control (matched sibling)
NA
NA
55176200
55214931
38732
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11374.s1
18.1
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11375.s1
4.6
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11376.s1
23.8
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11382.s1
11.3
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11396.s1
6.6
M
Control (matched sibling)
NA
NA
54961758
55214931
253174
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11399.s1
13.3
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11445.s1
9.5
F
Control (matched sibling)
NA
NA
55009318
55214931
205614
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11453.s1
8.8
F
Control (matched sibling)
NA
NA
55167087
55239058
71972
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11459.s1
14.3
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11469.s1
19.1
F
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11479.s1
4.2
F
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11483.s1
12.7
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11501.s1
13.4
M
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11504.s1
5.8
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11519.s1
4.3
F
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11522.s1
15.6
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11523.s1
4.9
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11526.s1
7.9
F
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11549.s1
21.9
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11556.s1
7.3
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11564.s1
6.3
F
Control (matched sibling)
NA
NA
55176099
55201190
25092
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
55160996
55239058
78063
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11568.s1
16.7
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11575.s1
15.1
F
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11578.s1
10.8
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11590.s1
7.9
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11600.s1
19.2
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11634.s1
9.9
M
Control (matched sibling)
NA
NA
55176099
55259170
83072
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11654.s1
6.3
F
Control (matched sibling)
NA
NA
55026761
55103782
77022
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11657.s1
8.2
F
Control (matched sibling)
NA
NA
55026761
55044521
17761
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11657.s1
8.2
F
Control (matched sibling)
NA
NA
55156733
55214931
58199
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11659.s1
4.8
F
Control (matched sibling)
NA
NA
55176099
55239058
62960
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11665.s1
12.9
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11679.s1
4
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11691.s1
16.3
M
Control (matched sibling)
NA
NA
55176099
55239058
62960
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11696.s1
16.8
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11718.s1
23.6
F
Control (matched sibling)
NA
NA
55156733
55214931
58199
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11740.s1
9.3
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11828.s1
5.5
F
Control (matched sibling)
NA
NA
55167087
55239058
71972
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11843.s1
16.9
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11860.s1
14.1
M
Control (matched sibling)
NA
NA
55160996
55214931
53936
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11928.s1
14.1
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11963.s1
6.1
F
Control (matched sibling)
NA
NA
54928232
55259170
330939
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11984.s1
7.7
F
Control (matched sibling)
NA
NA
55176099
55239058
62960
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11989.s1
8.1
F
Control (matched sibling)
NA
NA
54928232
55443233
515002
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12044.s1
8.8
M
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12052.s1
5.4
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12071.s1
19.6
M
Control (matched sibling)
NA
NA
55918080
56069144
151065
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12073.s1
7.3
F
Control (matched sibling)
NA
NA
55176099
55259170
83072
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12202.s1
8
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12219.s1
11.4
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12257.s1
4.6
M
Control (matched sibling)
NA
NA
55167087
55239058
71972
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12327.s1
16.3
F
Control (matched sibling)
NA
NA
55176099
55239058
62960
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12341.s1
11.3
F
Control (matched sibling)
NA
NA
54928232
55259170
330939
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12497.s1
10.8
F
Control (matched sibling)
NA
NA
55092749
55103782
11034
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12572.s1
6.6
F
Control (matched sibling)
NA
NA
55469789
55472434
2646
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12623.s1
8.8
M
Control (matched sibling)
NA
NA
55125495
55214931
89437
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12790.s1
8.9
F
Control (matched sibling)
NA
NA
55167087
55194056
26970
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12836.s1
4.2
M
Control (matched sibling)
NA
NA
55067727
55214931
147205
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12939.s1
5.7
M
Control (matched sibling)
NA
NA
55167087
55194056
26970
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12955.s1
9.5
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12957.s1
13.3
F
Control (matched sibling)
NA
NA
55176099
55259170
83072
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12972.s1
7.2
F
Control (matched sibling)
NA
NA
56555931
56584941
29011
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12989.s1
11.4
F
Control (matched sibling)
NA
NA
55176099
55259170
83072
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13005.s1
6.8
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13007.s1
19.8
F
Control (matched sibling)
NA
NA
55176099
55194056
17958
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13051.s1
9.4
F
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13072.s1
8.7
F
Control (matched sibling)
NA
NA
55176099
55259170
83072
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13168.s1
4.7
F
Control (matched sibling)
NA
NA
55167087
55214931
47845
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13195.s1
10.1
M
Control (matched sibling)
NA
NA
56555931
56584941
29011
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13195.s1
10.1
M
Control (matched sibling)
NA
NA
55176099
55214931
38833
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
davis_12_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
OR4S2,OR4C6,OR4V1P,OR4C11,OR4P4
fan_18_DD/ID_discovery_cases-subject1
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
fitzgerald_14_ASD/DD/ID_discovery_cases-case000005
De novo
Unknown
Unknown
TRIM48,TRIM51HP
girirajan_11_ASD_discovery_cases-Si101
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si102
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si106
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si108
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si116
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si117
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si120
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si123
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si124
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si125
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si129
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si131
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si132
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si136
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si138
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si139
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si140
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si142
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si149
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si15
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si150
Unknown
Simplex
OR4A11P,OR4A12P,OR4A16,OR4A15,TRIM48,TRIM51HP
girirajan_11_ASD_discovery_cases-Si151
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si165
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si17
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si173
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si176
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si178
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si18
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si182
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si183
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si184
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si185
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si186
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si187
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si188
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si189
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si19
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si191
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si193
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si194
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si195
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si197
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si198
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si200
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si202
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si204
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si208
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si209
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si21
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si210
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si219
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si220
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si223
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si224
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si227
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si228
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si229
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si231
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si232
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si237
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si24
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si243
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si25
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si251
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si258
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si259
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si26
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si261
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si263
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si266
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si267
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si27
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si270
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si275
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si279
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si284
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si288
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si289
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si292
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si301
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si304
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4P4
girirajan_11_ASD_discovery_cases-Si305
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si307
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si31
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si310
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si316
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si317
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si318
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si319
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si32
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si321
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si325
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si329
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si33
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si34
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si341
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4P4
girirajan_11_ASD_discovery_cases-Si344
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si348
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si349
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si35
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si350
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si36
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si37
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si39
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si40
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si46
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si47
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si51
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si52
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si55
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si59
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si6
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si62
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si63
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si65
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si68
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si70
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si71
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si72
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si73
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si74
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si80
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si81
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si82
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si83
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si86
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si88
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si91
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si92
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si95
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_cases-Si96
Unknown
Simplex
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-11107107914
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-12210113025
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-12308109510
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-13107107988
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-14307108019
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-14909111141
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-15008109638
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-15508109664
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-16708109743
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-16909111203
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-1709110692
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-17609111227
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-19305103869
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-19405103174
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-20207108119
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-20909111311
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-21009111337
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-21707108167
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-21907108174
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-22004100624
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-22505104145
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-23204100689
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-23404100705
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-23807108268
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-24705103861
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-25105101983
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-25807108397
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-27008110148
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-28208110205
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-28407108602
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-28504101060
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-28506106267
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-29007108475
Unknown
Unknown
Unknown
OR4C16,OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-29008110245
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-29309111573
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-29905103852
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-29909111597
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-3007107649
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-30208110271
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-30408110274
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-30708110281
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-31705108575
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-31906106492
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-33608110351
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-33906106436
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-3407107669
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-35408110434
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-35508110435
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-36006106625
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-3605102633
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-36805104915
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-36904100666
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-36907108784
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-37909111873
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-38905103540
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4P4
girirajan_13b_ASD_discovery_cases-39104101431
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-40008110627
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-40208110630
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-41005104435
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-4105102663
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-4106105419
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-41206106842
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-41504101477
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-42506106873
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-42805103614
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-43405103622
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-44106106924
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-45309112087
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-47009112005
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-47404100574
Unknown
Unknown
Unknown
OR4C16,OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-47604101025
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-48204101197
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-50104101765
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-50905104265
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-51206107184
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-52104101908
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-52904101932
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-53205104341
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-54304102048
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-54605104376
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-55104100200
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-57505104500
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-57804101558
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-60504102200
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-60704102209
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-60705104612
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-607107598
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-6103100278
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-61204102229
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-6208109266
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-63004102748
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-63204102829
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-63205104572
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-67204102376
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-67804102406
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-71104102660
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-7806105460
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-7905103425
Unknown
Unknown
Unknown
OR4C16,OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-8203100466
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-8205102886
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-8305102889
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-8405102790
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-8905102822
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-907107601
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-9105102949
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-9305102846
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-9405102860
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_cases-9805103469
Unknown
Unknown
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001278
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR4A12P,OR4A16,OR4A15,OR4A9P,OR4X7P,OR4A10P,OR4A17P,OR4A13P,OR4A21P,OR4C14P,OR4C15,OR4C16,OR4S2,OR4C6,OR4V1P,OR4P1P,OR5D2P,OR5D3P,OR5D17P,OR5D13,OR5D14,OR5L1,OR5L2,OR5D16,OR5W1P,OR5W2,OR5I1,OR10AF1P,OR10AK1P,OR7E5P,OR5F1,OR5F2P,OR5AQ1P,OR5J1P,OR5BE1P,OR8I2,OR8I4P,OR8H2,OR5BN2P,OR8H3,OR5BN1P,OR8J3,OR8K4P,OR8K5,OR5J7P,OR5J2,OR8V1P,OR4A50P,OR4C1P,OR4C11,OR4P4,OR5D15P,OR5D18,OR9M1P,TRIM51,OR5AS1,OR8J2,OR10AG1
krumm_15_ASD_discovery_cases-case11000.p1
Illumina 1M
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11031.p1
Illumina 1M
Maternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11045.p1
Illumina 1M
Paternal
Simplex
Segregated
OR4S2,OR4C6,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11051.p1
Illumina 1M
De novo
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11108.p1
Illumina 1M
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11118.p1
Illumina 1M
Maternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11120.p1
Illumina 1M
Maternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11164.p1
Illumina 1M
De novo
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11172.p1
Illumina 1M
Paternal
Simplex
Segregated
OR4C16,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11241.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11267.p1
Illumina 1M
De novo
Simplex
Not segregated (CNV in unaffected sibling)
OR4C16,OR4S2,OR4C6,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11398.p1
Illumina 1M
De novo
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11437.p1
Illumina 1M
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11458.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11465.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11471.p1
Illumina 1M
De novo
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11498.p1
Illumina 1M
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11575.p1
Illumina 1M
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11630.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11642.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11775.p1
Illumina 1MDuo
De novo
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11810.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11828.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11846.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11863.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11920.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11924.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case11995.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12011.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12044.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12091.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12212.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12271.p1
Illumina 1MDuo
De novo
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12308.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12381.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12417.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12437.p1
Illumina 1MDuo
De novo
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12440.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12444.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12548.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12603.p1
Illumina 1MDuo
De novo
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12656.p1
Illumina 1MDuo
De novo
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12740.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12780.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12794.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12892.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12916.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12930.p1
Illumina 1MDuo
De novo
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case12976.p1
Illumina 1MDuo
De novo
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13135.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13197.p1
1M-Duov3
De novo
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13382.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13478.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13523.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13527.p1
1M-Duov3
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13552.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13572.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13614.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13653.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13673.p1
1M-Duov3
Maternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13678.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13757.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13764.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13825.p1
Omni2.5-4v1
De novo
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13833.p1
Omni2.5-4v1
De novo
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13878.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case13880.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case14180.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case14201.p1
Omni2.5-4v1
De novo
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case14267.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case14280.p1
Omni2.5-4v1
De novo
Simplex
Not segregated (CNV in unaffected sibling)
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case14407.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case14425.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_cases-case14438.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
OR4S2,OR4C11,OR4P4
larson_17_ASD_discovery_cases-case82
Unknown
Unknown
OR9M1P,TRIM51
larson_17_ASD_discovery_cases-case83
Unknown
Unknown
OR9M1P,TRIM51
nava_13_ASD_discovery_cases-Fam1176Proband10539
Unknown
Simplex
Unknown
RPL5P29,OR8U1,OR8L1P,OR5AL2P,OR5AL1,OR5R1,OR5M4P,OR5M9,OR8J1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
Maternal
Multi-generational (paternal uncle diagnosed with Asperger syndrome)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4P4
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient4
Paternal
Multi-generational
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient5
Both parents
Multi-generational
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
Maternal
Multi-generational
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4P4
poultney_13_ASD_discovery_cases-case00HI1663A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
OR4A16,OR4A15,OR4A9P,OR4X7P,OR4A10P,OR4A17P,OR4A13P,OR4A21P,OR4C14P,OR4C15,OR4C16,OR4S2,OR4C6,OR4V1P,OR4P1P,OR5D2P,OR5D3P,OR5D17P,OR5D13,OR5D14,OR5L1,OR5L2,OR5D16,OR4A50P,OR4C1P,OR4C11,OR4P4,OR5D15P,OR5D18
prasad_12_ASD_discovery_cases-case71920
Unknown
Unknown
Unknown
OR8U8
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-131
Not tested by qPCR
Unknown
Unknown
Unknown
OR4A11P,OR4A12P,OR4A16,OR4A15,OR4A9P,OR4X7P,OR4A10P,OR4A17P,OR4A13P,OR4A21P,OR4C14P,OR4C15,OR4C16,OR4S2,OR4C6,OR4V1P,OR4P1P,OR5D2P,OR5D3P,OR5D17P,OR5D13,OR5D14,OR5L1,OR5L2,OR5D16,OR4A50P,OR4C1P,OR4C11,OR4P4,OR5D15P,OR5D18,OR9M1P
sanders_11_ASD_discovery_cases-11000.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11006.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11033.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11037.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11039.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11047.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11048.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11050.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11052.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11055.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11059.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11069.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11075.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11077.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11079.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11083.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11096.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11108.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11122.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11124.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11128.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11135.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11141.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11148.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11159.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11176.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11193.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11197.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11198.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11201.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11208.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11214.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11218.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11235.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11265.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11274.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11289.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11310.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11312.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11321.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11328.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11346.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11350.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11353.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11356.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11374.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11378.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11379.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11381.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11382.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11394.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11399.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11404.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11424.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11436.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11444.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11452.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11453.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11455.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11463.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11466.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11471.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11472.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11479.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11484.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11498.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11501.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11504.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11520.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11526.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11545.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11551.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11557.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11567.p1
Paternal
Simplex (quad-proband matched)
Not segregated
OR5M10
sanders_11_ASD_discovery_cases-11575.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11597.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11599.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11600.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11659.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11666.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11667.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11677.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11691.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11711.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11718.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11740.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11828.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11857.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11878.p1
Maternal
Simplex (trio)
NA
OR5AR1,OR2AH1P
sanders_11_ASD_discovery_cases-11893.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11924.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11942.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11984.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11989.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12031.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12077.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12087.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12184.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12202.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12232.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12255.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12312.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12327.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12343.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12349.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12351.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12366.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12376.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12395.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12448.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12512.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12575.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12596.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12614.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12631.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12667.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12757.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12785.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12790.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12792.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12852.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12871.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12972.p1
Paternal
Simplex (quad-proband matched)
Not segregated
OR5M10
sanders_11_ASD_discovery_cases-12975.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13007.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13016.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13073.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13076.p1
Paternal
Simplex (quad-proband matched)
Not segregated
OR5T3,OR5T1,OR8H1
sanders_11_ASD_discovery_cases-13152.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13183.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
shen_10b_ASD_discovery_cases-caseII:5
Both parents
Simplex
Unknown
OR4C11,OR4P4,OR4S2,OR4C6
tabet_12_ASD_discovery_cases-patient1
Paternal
Multiplex
Unknown
OR4C11
tabet_12_ASD_discovery_cases-patient2
Paternal
Multiplex
Unknown
OR4C11
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_11_ASD_discovery_controls-NIMH_01
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_100
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_103
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_104
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_105
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_107
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_109
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_112
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_120
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_121
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_122
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_123
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_132
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_136
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_138
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_140
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_143
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_146
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_148
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_152
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_153
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_154
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_155
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_158
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_16
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_161
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_162
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_164
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_165
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_166
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_167
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_170
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_173
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_175
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_178
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_181
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_182
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_184
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_185
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_19
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_190
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_191
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_192
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_193
Unknown
OR4C16,OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_195
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_196
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_197
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_199
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_201
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_202
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_204
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_205
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_206
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_208
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_210
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_217
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_219
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_22
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_224
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_228
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_232
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_233
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_235
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_239
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_24
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_241
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_25
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_252
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_253
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_255
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_256
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_258
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_264
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_273
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_274
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_275
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_276
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_279
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_280
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_282
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_286
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_29
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_290
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_295
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_296
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_297
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_30
Unknown
OR4C16,OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_301
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_306
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_307
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_309
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_310
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_311
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_316
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_318
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_320
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_321
Unknown
OR4C16,OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_323
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_328
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_34
Unknown
OR4C16,OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_37
Unknown
OR4C16,OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_38
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_48
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_50
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_71
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_75
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_78
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_80
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_84
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_85
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_86
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_88
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_89
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_91
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_92
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_93
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_97
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_11_ASD_discovery_controls-NIMH_99
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-1008108829
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-10106105795
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-105102427
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-107107567
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-10905103688
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-11206105836
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-11607107933
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-11806105859
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-11910113021
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-12110113024
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-12306105910
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-12508109518
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-12907107979
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-1306105504
Unknown
OR5D2P,OR5D3P,OR5D17P,OR5D13,OR5D14,OR5L1,OR5L2,OR5D16,OR5D15P,OR5D18,OR9M1P
girirajan_13b_ASD_discovery_controls-1306105504
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-13703100328
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-13908109580
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-14403100350
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-14406105966
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-14710112915
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-1506105511
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-15506105989
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-15607108080
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-16207108108
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-16503100409
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-1707107618
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-17203100441
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-18905103218
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-19807108141
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-20809111324
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-23107108218
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-24809111471
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-24907108358
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-25204100801
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-25205103118
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-25306106253
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-26707108441
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-28304101054
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-28605103511
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-28706106413
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-29005103467
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-29606106442
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-30109111610
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-30705103901
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-30706106486
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-31007108543
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-31207108545
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-31407108557
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-32006106507
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-3208108937
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-32508110343
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-32607108609
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-33006106538
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-33409111730
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-33907108640
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-34506106593
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-34608110415
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-34707108258
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-3506105586
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-35208110427
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-35507108745
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-36607108778
Unknown
OR4S2,OR4C6,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-37205104108
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-37209111863
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-37904101339
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-38206106769
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-39506106808
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-40706106823
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-40804101794
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-43206106894
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-43806106913
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-46006106980
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-46206106988
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-46806107025
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-48905104181
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-48906107104
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-49206107109
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-49604101726
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-50406107159
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-51406107186
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-52505104317
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-52809112566
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-52909112286
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-56606107560
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-57305104494
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-59905104552
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-6007107751
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-606105484
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-62704102317
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-6505102739
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-66605104891
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-66705104892
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-67005104902
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-68905105387
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-70005105416
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-7006105686
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-70305105431
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4P4
girirajan_13b_ASD_discovery_controls-70505105438
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-72204103059
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-7907107797
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-8206105715
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
girirajan_13b_ASD_discovery_controls-8808109366
Unknown
OR4S2,OR4C6,OR4V1P,OR4P1P,OR4C11,OR4P4
kanduri_15_ASD_discovery_controls-control_split1039
Unknown
Intergenic CNV: nearest genes, TRIM48(dist=54965)
kanduri_15_ASD_discovery_controls-control_split1459
Unknown
Intergenic CNV: nearest genes, TRIM48(dist=54965)
kanduri_15_ASD_discovery_controls-control_split1502
Unknown
OR4C11
kanduri_15_ASD_discovery_controls-control_split1824
Unknown
OR4C11
kanduri_15_ASD_discovery_controls-control_split1840
Unknown
Intergenic CNV: nearest genes, TRIM48(dist=54965)
kanduri_15_ASD_discovery_controls-control_split799
Unknown
OR4C6,OR4S2
kanduri_15_ASD_discovery_controls-control_split811
Unknown
Intergenic CNV: nearest genes, TRIM48(dist=74742)
kanduri_15_ASD_discovery_controls-control_split848
Unknown
Intergenic CNV: nearest genes, OR4C11(dist=10020),OR4P4(dist=13396)
krumm_13_ASD_discovery_controls-control13097.s1
Maternal
Simplex
OR4C6,OR4V1P,OR4P1P,OR5D2P,OR5D3P,OR5D17P,OR5D13,OR5D14,OR5L1,OR5L2,OR5D15P,OR5D18
krumm_15_ASD_discovery_controls-control11014.s1
Illumina 1M
Paternal
OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control11107.s1
Illumina 1M
Paternal
OR5L1,OR5L2,OR5D18
krumm_15_ASD_discovery_controls-control11164.s1
Illumina 1M
De novo
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control11401.s1
Illumina 1M
Maternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control11458.s1
Illumina 1M
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control11775.s1
Illumina 1MDuo
De novo
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control11828.s1
Illumina 1MDuo
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control11895.s1
Illumina 1MDuo
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control11920.s1
Illumina 1MDuo
Maternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control11924.s1
Illumina 1MDuo
Maternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control12011.s1
Illumina 1MDuo
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control12091.s1
Illumina 1MDuo
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control12271.s1
Illumina 1MDuo
De novo
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control12467.s1
1M-Duov3
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control12548.s1
Illumina 1MDuo
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control12630.s1
Illumina 1MDuo
Maternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control12656.s1
Illumina 1MDuo
De novo
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control12664.s1
Illumina 1MDuo
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control12685.s1
Illumina 1MDuo
Maternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control12780.s1
Illumina 1MDuo
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control12853.s1
Illumina 1MDuo
De novo
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control12892.s1
Illumina 1MDuo
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control12916.s1
Illumina 1MDuo
Maternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control12923.s1
Illumina 1MDuo
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control12997.s1
Illumina 1MDuo
Maternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13018.s1
Illumina 1MDuo
Paternal
OR4C16,OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13097.s1
Illumina 1MDuo
Maternal
OR4C6,OR4V1P,OR4P1P,OR5D2P,OR5D3P,OR5D17P,OR5D13,OR5D14,OR5L1,OR5L2,OR5D15P,OR5D18
krumm_15_ASD_discovery_controls-control13123.s1
1M-Duov3
Maternal
OR4C6,OR4V1P,OR4P1P,OR5D2P,OR5D3P,OR5D17P,OR5D13,OR5D14,OR5L1,OR5L2,OR5D15P,OR5D18
krumm_15_ASD_discovery_controls-control13135.s1
Illumina 1MDuo
Maternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13203.s1
1M-Duov3
De novo
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13250.s1
1M-Duov3
De novo
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13301.s1
Illumina 1MDuo
Maternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13302.s1
1M-Duov3
Maternal
OR4C15,OR4C16,OR4S2,OR4C6,OR4V1P,OR4P1P,OR5D2P,OR5D3P,OR5D17P,OR5D13,OR5D14,OR5L1,OR5L2,OR5D16,OR4C11,OR4P4,OR5D15P,OR5D18
krumm_15_ASD_discovery_controls-control13381.s1
1M-Duov3
De novo
OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13523.s1
1M-Duov3
Maternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13552.s1
1M-Duov3
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13572.s1
Omni2.5-4v1
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13614.s1
Omni2.5-4v1
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13645.s1
1M-Duov3
Maternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13697.s1
Omni2.5-4v1
Maternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13813.s1
Omni2.5-4v1
De novo
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13825.s1
Omni2.5-4v1
De novo
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13855.s1
Omni2.5-4v1
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13880.s1
Omni2.5-4v1
Maternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control13975.s1
Omni2.5-4v1
De novo
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control14086.s1
Omni2.5-4v1
Maternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control14180.s1
Omni2.5-4v1
Maternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control14201.s1
Omni2.5-4v1
De novo
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control14202.s1
Omni2.5-4v1
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control14209.s1
Omni2.5-4v1
Maternal
OR4C6,OR4V1P,OR4P1P,OR5D2P,OR5D3P,OR5D17P,OR5D13,OR5D14,OR5L1,OR5L2,OR5D15P,OR5D18
krumm_15_ASD_discovery_controls-control14241.s1
Omni2.5-4v1
Paternal
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control14280.s1
Omni2.5-4v1
De novo
OR4S2,OR4C11,OR4P4
krumm_15_ASD_discovery_controls-control14411.s1
Omni2.5-4v1
De novo
OR4S2,OR4C11,OR4P4
levy_11_ASD_discovery_controls-11231.s1
Both parents
Simplex
NA
OR5I1,OR10AF1P,OR10AK1P,OR7E5P,OR5F1,OR5F2P,OR5AQ1P,OR5AS1,OR10AG1
levy_11_ASD_discovery_controls-11989.s1
Paternal
Simplex
NA
OR4A11P,OR4A12P,OR4A16,OR4A15,OR4A9P,OR4X7P,OR4A10P,OR4A17P,TRIM48,TRIM51HP
sanders_11_ASD_discovery_controls-11009.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11010.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11017.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11027.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11029.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11037.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11041.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11043.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11047.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11052.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11055.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11055.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11056.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11057.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11069.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11071.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11073.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11075.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11092.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11098.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11118.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11141.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11142.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11159.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11172.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11176.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11178.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11179.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11187.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11190.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11193.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11195.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11207.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11208.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11215.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11219.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11220.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11224.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11229.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11254.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11254.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11256.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11263.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11266.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11267.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11289.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11304.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11309.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11310.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11327.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11336.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11349.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11366.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11374.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11375.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11376.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11382.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11396.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11399.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11445.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11453.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11459.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11469.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11479.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11483.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11501.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11504.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11519.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11522.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11523.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11526.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11549.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11556.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11564.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11567.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11568.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11575.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11578.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11590.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11600.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11634.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11654.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11657.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11657.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11659.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11665.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11679.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11691.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11696.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11718.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11740.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11828.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11843.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11860.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11928.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11963.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11984.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11989.s1
Paternal
Simplex (quad)
NA
OR4A11P,OR4A12P,OR4A16,OR4A15,OR4A9P,OR4X7P,OR4A10P,TRIM48,TRIM51HP
sanders_11_ASD_discovery_controls-12044.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12052.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12071.s1
Maternal
Simplex (quad)
NA
OR5I1,OR10AF1P,OR10AK1P,OR7E5P,OR5F1,OR5F2P,OR5AQ1P,OR5AS1,OR10AG1
sanders_11_ASD_discovery_controls-12073.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12202.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12219.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12257.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12327.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12341.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12497.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12572.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12623.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12790.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12836.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12939.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12955.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12957.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12972.s1
Paternal
Simplex (quad)
NA
OR5M10
sanders_11_ASD_discovery_controls-12989.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13005.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13007.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13051.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13072.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13168.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13195.s1
Maternal
Simplex (quad)
NA
OR5M10
sanders_11_ASD_discovery_controls-13195.s1
Both parents
Simplex (quad)
NA
No Animal Model Data Available