16p12.1CNV Type: Deletion-Duplication
Largest CNV size: 802555 bp
Statistics Box:
Number of Reports: 20
Number of Reports: 20
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
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
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
4000
1
0
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
315
1
0
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
282541
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
562708
14
1
15
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.
772930
0
2
2
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
490000
56
16
72
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
107511
7
0
7
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
808273
17
4
21
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
159841
1
2
3
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
499957
0
1
1
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
507294
1
1
2
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
491796
1
3
4
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
802555
1
0
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
67700
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
562709
4
0
4
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
496394
2
0
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
62375
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
476469
1
0
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
486519
17
4
21
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
456000
1
0
1
yuen_16_ASD_discovery_cases
Cases from unrelated trio families from a cohort of Canadian ASD families
200
Cases met criteria for ASD based on ADI-R, ADOS, and clinical evaluation
N/A
N/A
11979
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
604283
26
3
29
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.
73853
1
0
1
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
490000
3
1
4
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
107511
10
0
10
itsara_10_ASD_discovery_controls_1
Unaffected siblings of ASD probands from multiplex (n=368) and simplex (n=59) families from AGRE collection
427
Controls: Unaffected or Not Met
474576
0
1
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
95420
1
2
3
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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)
62375
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.
90777
9
1
10
yuen_16_ASD_discovery_controls
CNVs from Database of Genomic Variants (DGV); used to reduce the false detection of de novo CNVs
N/A
Control
N/A
N/A
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
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)
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
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
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
None
yuen_16_ASD_discovery_cases
Canada
N/A
High-resolution microarray platform
Segseq, ERDS
qPCR, Sanger sequencing
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
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
itsara_10_ASD_discovery_controls_1
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
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
yuen_16_ASD_discovery_controls
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
asadollahi_14_NDD_discovery_cases-case60984
4 yrs.
F
Developmental delay
Developmental delay, growth hormone deficiency, celiac disease, hypoplastic left kidney
24874320
24878290
3971
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
24729556
24729871
316
GRCh38
Deletion
No
davis_09_ASD_discovery_cases-AU026803
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
22328822
22611363
282541
Unknown
Deletion
No
engchuan_15_ASD_discovery_cases-case14071_1240
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21869594
22432302
562709
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14315_4320
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22610469
22698442
87974
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14325_4390
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22634371
22698442
64072
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14335_4490
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21937801
22424490
486690
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16081_1571071001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22634371
22698442
64072
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18108_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22600609
22703259
102651
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case21003_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22600609
22703259
102651
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3174_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21935909
22424490
488582
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3385_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22552697
22703259
150563
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3601_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22610469
22698442
87974
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5366_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22552697
22698442
145746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6043_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22611476
22698442
86967
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6261_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21935909
22412377
476469
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8491_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22614315
22698442
84128
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8514_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
21937801
22432302
494502
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si163
8
M
Autism
ADOS score: 7. Vineland composite score: 63.
Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 47; Non-verbal IQ, 49.
22545515
22693152
147638
GRCh38
Deletion
No
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.
22619299
22704589
85291
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si172
12
M
Autism
ADOS score: 9. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 148; Verbal IQ, 113; Non-verbal IQ, 158.
22545515
22693152
147638
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si175
16
F
Autism
ADOS score: 5. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.
22545515
22693152
147638
GRCh38
Deletion
No
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.
22545515
22693152
147638
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si2
11
F
Autism
ADOS score: 8. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 84; Verbal IQ, 95; Non-verbal IQ, 81.
22619299
22703361
84063
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.
22619795
22686243
66449
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si225
11
F
Autism
ADOS score: 8. Vineland composite score: 69.
Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 30; Non-verbal IQ, 49.
22545515
22703361
157847
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si236
13
M
Autism
ADOS score: 7. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 98; Non-verbal IQ, 102.
22545515
22693152
147638
GRCh38
Duplication
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.
22545515
22693152
147638
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si247
13
M
Autism
ADOS score: 6. Vineland composite score: 57.
No mental retardation/intellectual disability. Full-scale IQ, 76; Verbal IQ, 46; Non-verbal IQ, 93.
22103465
22348814
245350
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si254
12
F
Autism
ADOS score: 6. Vineland composite score: 54.
Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 27; Non-verbal IQ, 34.
22585641
22693152
107512
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si296
18
M
Autism
ADOS score: NA. Vineland composite score: 68.
No mental retardation/intellectual disability. Full-scale IQ, 141; Verbal IQ, 143; Non-verbal IQ, 132.
22545515
22693152
147638
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si306
14
M
Autism
ADOS score: 6. Vineland composite score: 59.
Severe mental retardation/intellectual disability. Full-scale IQ, 33; Verbal IQ, 26; Non-verbal IQ, 36.
22545515
22686243
140729
GRCh38
Deletion
No
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.
22545515
22703361
157847
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si346
9
M
Autism
ADOS score: 10. Vineland composite score: 78.
No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 77; Non-verbal IQ, 92.
22585641
22693152
107512
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si61
13
M
Autism
ADOS score: 6. Vineland composite score: 67.
No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 128; Non-verbal IQ, 106.
22545515
22693152
147638
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si66
9
M
Autism
ADOS score: 7. Vineland composite score: 64.
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 50; Non-verbal IQ, 59.
22545515
22693152
147638
GRCh38
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case1023
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1024
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1025
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1026
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1027
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1028
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1029
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1030
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1031
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1032
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1033
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1034
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1035
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1036
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1037
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1038
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1039
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1040
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1041
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1042
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1043
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1044
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1045
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1046
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1047
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1048
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1049
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1050
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1051
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1052
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1053
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1054
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1055
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1056
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1057
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1058
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1059
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1060
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1061
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1062
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1063
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1064
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1065
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1066
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1067
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1068
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1069
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1070
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1071
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1072
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1073
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1074
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1075
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1076
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1077
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1078
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1079
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1080
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1081
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1082
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1083
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1084
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1085
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1086
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case24781
NA
NA
Developmental delay
NA
Developmental delay
21931178
22421178
490001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case30323
NA
NA
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case31898
NA
NA
Developmental delay
Dysmorphic features, seizure disorder
Developmental delay
21931178
22421178
490001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case34937
NA
NA
Developmental delay
Trisomy 21.
NA
21931178
22421178
490001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case39259
NA
NA
ASD
Autistic disorder
NA
21931178
22421178
490001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case42977
NA
M
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case43670
NA
M
Developmental delay
NA
NA
21931178
22421178
490001
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case52882
NA
NA
Developmental delay
Unbalanced translocation: inherited a supernumerary chromosome made up of 9p, 9cen, 15p - mom is balanced carrier
NA
21931178
22421178
490001
GRCh38
Deletion
Yes
girirajan_13b_ASD_discovery_cases-1709110692
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
22585641
22693152
107512
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-21908109957
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22585641
22693152
107512
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-24609111458
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
22585641
22693152
107512
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
22585641
22693152
107512
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
22585641
22686243
100603
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-909110667
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22585641
22693152
107512
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-9106105625
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
22619299
22693152
73854
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000005
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21826171
22396610
570440
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000795
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21826171
22396610
570440
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001036
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21826171
22396610
570440
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001053
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21826171
22396610
570440
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002211
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21973700
22396610
422911
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003783
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21826171
22396610
570440
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004048
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21826171
22396610
570440
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004147
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21826171
22358401
532231
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004158
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21940058
22396610
456553
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004174
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21826171
22396610
570440
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004181
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21826171
22396610
570440
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004475
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21826171
22396610
570440
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004665
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21826171
22396610
570440
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004722
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21794978
22396610
601633
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004842
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21826171
22396610
570440
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004950
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21825971
22396751
570781
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005165
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21826171
22634444
808274
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005252
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22055774
22634444
578671
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005266
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21826171
22396610
570440
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005277
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21826171
22396610
570440
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005423
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22755932
23546240
790309
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11458.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
24875626
24911533
35908
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12302.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
25217045
25253037
35993
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14017.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
27066995
27226836
159842
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD0073
39 yrs.
M
ASD, ADHD
Developmental milestones: motor delay. Behavioral/psychiatric evaluation: ADHD, sensory hypersensitivity, mood disorders (depressive symptoms), arm waving. Family history: negative.
IQ > 70
21928119
22428075
499957
GRCh38
Duplication
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0601
49 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
21928119
22428075
499957
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0921
50 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 37 years of age (core symptoms include auditory hallucinations, persecutory delusions, depressive and manic symptoms), mood symptoms. Congenital and developmental phenotypes: low birth weight. Family history: negative.
IQ > 70
21928119
22435412
507294
GRCh38
Duplication
N/A
levy_11_ASD_discovery_cases-11030.p1
NA
M
ASD
NA
NA
22739140
22834559
95420
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11458.p1
NA
M
ASD
NA
NA
24874369
24918266
43898
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11775.p1
NA
M
ASD
NA
NA
27042447
27076495
34049
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11834.p1
NA
M
ASD
NA
NA
21937146
22428941
491796
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-MM0289-003
NA
F
ASD
Language delay, moderate repetitive behavior
IQ/LOF 45
21889986
22692541
802556
GRCh38
Deletion
Yes
morrow_08_ASD_discovery_cases-case3301
NA
ASD
NA
NA
22534000
22602000
67700
Unknown
Deletion
No
pinto_10_ASD_discovery_cases-case14071_1240
NA
M
Autism
Phrase speech delay, neurodevelopmental delay with onset at 2 y, no dysmorphic features, no epilepsy, sleep problems
Mild MR
21869594
22432302
562709
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case3174_003
NA
M
Autism
Language delay, some gross and fine motor coordination difficulties, no dysmorphic features or associated medical or psychiatric problems, no epilepsy. Brother with 16p12.1 CNV: Autism, low average IQ, language delay, some mild dysmorphic facial features, no epilepsy
Low average IQ
21935909
22424490
488582
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5366_5
NA
M
ASD
NA
NA
22552697
22698442
145746
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case6261_3
NA
M
Autism
Language delay, hearing deficit detected at 1 yr, treated with hearing aid, audiogram at 4 yrs normal; normal physical exam, no epilepsy, normal brain CT
Mild MR
21935909
22412377
476469
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case14335_4490
N/A
M
ASD
Autism (based on ADI-R and ADOS), language delay, no functional language, no epilepsy. Family history: N/A.
Average non-verbal development (Griffiths: language DQ 36, performance DQ 98, global DQ 67).
21940094
22413473
473380
GRCh38
Deletion
No
pinto_14_ASD_discovery_cases2-case9809_202
N/A
M
ASD
Autism (based on ADI-R and ADOS), no language delay, verbal, seizures
mild ID (WPPSI-III: VIQ 67, PIQ 65, FSIQ 66)
21940094
22413473
473380
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case139459L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
22625580
22687954
62375
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP99-146a1
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
21935909
22412377
476469
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11030.p1
8.3
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98
22739394
22833372
93979
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11458.p1
16.4
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 106; verbal IQ, 126
24876794
24918154
41361
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11506.p1
7
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82
23580394
23601399
21006
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11693.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 76; verbal IQ, 88
25909777
25976172
66396
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11775.p1
9.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
27039896
27069589
29694
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11834.p1
10.5
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 93; verbal IQ, 46
21952043
22438562
486520
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11869.p1
10.1
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
25552359
25572061
19703
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11989.p1
9.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
25552359
25572061
19703
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12076.p1
9.8
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 98
25552359
25572061
19703
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12271.p1
10.5
M
Autism
NA
Full-scale IQ, 41; non-verbal IQ, 41; verbal IQ, 40
23587628
23634027
46400
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12289.p1
12.2
M
ASD
NA
Full-scale IQ, 101; non-verbal IQ, 109; verbal IQ, 86
23587628
23601399
13772
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
27226789
27228698
1910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12534.p1
7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
25552359
25572061
19703
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12572.p1
14.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
23580394
23601399
21006
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12674.p1
6.5
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 86
25552359
25572061
19703
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12682.p1
9.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92
24459392
24466084
6693
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12843.p1
6.2
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84
23591804
23597561
5758
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12930.p1
12.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 57
23587628
23601399
13772
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13018.p1
12.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75
25552359
25567291
14933
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13031.p1
5.1
F
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
25552359
25572061
19703
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13174.p1
10
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 93; verbal IQ, 126
25552359
25572061
19703
GRCh38
Deletion
No
xu_16_ASD/DD/ID_discovery_cases-case22
N/A
N/A
ASD
Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
21964406
22420037
455632
GRCh38
Deletion
No
yuen_16_ASD_discovery_cases-sample2-1361-003
N/A
N/A
ASD
Case met criteria for ASD based on ADI-R, ADOS, and clinical evaluation. CNV detected in this case was not present in DGV.
26182048
26194026
11979
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB425638_1007872643
N/A
N/A
Control
No previous psychiatric history
21828019
22432302
604284
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB483586_1007842342
N/A
N/A
Control
No previous psychiatric history
22552697
22698442
145746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB490963_1007853895
N/A
N/A
Control
No previous psychiatric history
22597686
22698442
100757
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB536568_1007854032
N/A
N/A
Control
No previous psychiatric history
22552697
22698442
145746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB624090_1007853967
N/A
N/A
Control
No previous psychiatric history
22597686
22698442
100757
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB709920_1007843547
N/A
N/A
Control
No previous psychiatric history
22552697
22698442
145746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB779589_1007853847
N/A
N/A
Control
No previous psychiatric history
22575272
22698442
123171
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB886417_1007872528
N/A
N/A
Control
No previous psychiatric history
27608774
27650260
41487
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB910439_1007845334
N/A
N/A
Control
No previous psychiatric history
22572406
22698442
126037
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB916582_1007854385
N/A
N/A
Control
No previous psychiatric history
22552697
22698442
145746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB957019_1007844002
N/A
N/A
Control
No previous psychiatric history
22552697
22698442
145746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB972803_1007842434
N/A
N/A
Control
No previous psychiatric history
22589203
22698442
109240
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB988624_1007854912
N/A
N/A
Control
No previous psychiatric history
22552697
22698442
145746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900349_900349
N/A
N/A
Control
No previous psychiatric history
22620078
22698442
78365
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900353_900353
N/A
N/A
Control
No previous psychiatric history
22376973
22432302
55330
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900545_900545
N/A
N/A
Control
No previous psychiatric history
22600609
22698442
97834
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900716_900716
N/A
N/A
Control
No previous psychiatric history
22614315
22698442
84128
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900927_900927
N/A
N/A
Control
No previous psychiatric history
22600609
22698442
97834
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900989_900989
N/A
N/A
Control
No previous psychiatric history
22600609
22698442
97834
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901007_901007
N/A
N/A
Control
No previous psychiatric history
22614315
22698442
84128
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901219_901219
N/A
N/A
Control
No previous psychiatric history
22622631
22698442
75812
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901266_901266
N/A
N/A
Control
No previous psychiatric history
22622631
22698442
75812
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902481_902481
N/A
N/A
Control
No previous psychiatric history
22610469
22702291
91823
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902562_902562
N/A
N/A
Control
No previous psychiatric history
22622631
22698442
75812
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902564_902564
N/A
N/A
Control
No previous psychiatric history
22622631
22698442
75812
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902571_902571
N/A
N/A
Control
No previous psychiatric history
22614315
22698442
84128
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902611_902611
N/A
N/A
Control
No previous psychiatric history
26203871
26240251
36381
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902744_902744
N/A
N/A
Control
No previous psychiatric history
22597902
22698442
100541
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902800_902800
N/A
N/A
Control
No previous psychiatric history
21955548
22432302
476755
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_223
NA
NA
Control
NA
NA
22619299
22693152
73854
GRCh38
Deletion
No
girirajan_12_ASD/DD/ID_discovery_controls-control91
NA
NA
Control
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control92
NA
NA
Control
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control93
NA
NA
Control
NA
NA
21931178
22421178
490001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_controls-control94
NA
NA
Control
NA
NA
21931178
22421178
490001
GRCh38
Duplication
NA
girirajan_13b_ASD_discovery_controls-10608109423
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22585641
22693152
107512
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-1105102542
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22619299
22693152
73854
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-11105103556
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22585641
22693152
107512
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-17203100441
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22585641
22686243
100603
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-33505103850
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22585641
22693152
107512
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-35706106616
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22619299
22693152
73854
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-42606106877
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22585641
22693152
107512
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-46806107025
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22619299
22693152
73854
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-49206107109
N/A
N/A
Control
Ethnicity: Hispanic
N/A
22585641
22686243
100603
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-9507107845
N/A
N/A
Control
Ethnicity: Caucasian
N/A
22585641
22693152
107512
GRCh38
Deletion
No
itsara_10_ASD_discovery_controls_1-HI0267
NA
NA
Unaffected
NA
NA
21937801
22412377
474577
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11030.s1
NA
F
Control
NA
NA
22739140
22834559
95420
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11775.s1
NA
F
Control
NA
NA
27042447
27076495
34049
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12100.s1
NA
F
Control
NA
NA
23062706
23106250
43545
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11030.s1
5.3
F
Control (matched sibling)
NA
NA
22739394
22830171
90778
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11720.s1
11.6
F
Control (matched sibling)
NA
NA
23578665
23629146
50482
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11775.s1
12.7
F
Control (matched sibling)
NA
NA
27042840
27069589
26750
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12517.s1
11.7
M
Control (matched sibling)
NA
NA
23587628
23598069
10442
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12552.s1
4.2
M
Control (matched sibling)
NA
NA
25552359
25567291
14933
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12621.s1
8.8
M
Control (matched sibling)
NA
NA
23877519
23890055
12537
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
25552359
25572061
19703
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12892.s1
15.4
F
Control (matched sibling)
NA
NA
23587628
23598069
10442
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13166.s1
5.6
M
Control (matched sibling)
NA
NA
25552359
25567291
14933
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
23587628
23598069
10442
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case60984
MLPA
Maternal
Unknown
Unknown
SLC5A11
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
TNRC6A
davis_09_ASD_discovery_cases-AU026803
Unknown
Unknown
Unknown
LOC23117
engchuan_15_ASD_discovery_cases-case14071_1240
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
engchuan_15_ASD_discovery_cases-case14315_4320
Unknown
engchuan_15_ASD_discovery_cases-case14325_4390
Unknown
engchuan_15_ASD_discovery_cases-case14335_4490
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
engchuan_15_ASD_discovery_cases-case16081_1571071001
Unknown
engchuan_15_ASD_discovery_cases-case18108_302
Unknown
engchuan_15_ASD_discovery_cases-case21003_1
Unknown
engchuan_15_ASD_discovery_cases-case3174_3
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
engchuan_15_ASD_discovery_cases-case3385_3
Unknown
OTOAP1
engchuan_15_ASD_discovery_cases-case3601_3
Unknown
engchuan_15_ASD_discovery_cases-case5366_5
Unknown
OTOAP1
engchuan_15_ASD_discovery_cases-case6043_4
Unknown
engchuan_15_ASD_discovery_cases-case6261_3
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,VWA3A,EEF2K,CDR2,MOSMO
engchuan_15_ASD_discovery_cases-case8491_202
Unknown
engchuan_15_ASD_discovery_cases-case8514_202
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_11_ASD_discovery_cases-Si163
Unknown
Simplex
OTOAP1
girirajan_11_ASD_discovery_cases-Si165
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si172
Unknown
Simplex
OTOAP1
girirajan_11_ASD_discovery_cases-Si175
Unknown
Simplex
OTOAP1
girirajan_11_ASD_discovery_cases-Si19
Unknown
Simplex
OTOAP1
girirajan_11_ASD_discovery_cases-Si2
aCGH (Nimblegen 3x720K or Agilent 2x400K)
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si224
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si225
Unknown
Simplex
OTOAP1
girirajan_11_ASD_discovery_cases-Si236
Unknown
Simplex
OTOAP1
girirajan_11_ASD_discovery_cases-Si237
Unknown
Simplex
OTOAP1
girirajan_11_ASD_discovery_cases-Si247
Unknown
Simplex
SDR42E2,POLR3E,VWA3A,EEF2K,CDR2
girirajan_11_ASD_discovery_cases-Si254
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si296
Unknown
Simplex
OTOAP1
girirajan_11_ASD_discovery_cases-Si306
Unknown
Simplex
OTOAP1
girirajan_11_ASD_discovery_cases-Si318
Unknown
Simplex
OTOAP1
girirajan_11_ASD_discovery_cases-Si346
Unknown
Simplex
girirajan_11_ASD_discovery_cases-Si61
Unknown
Simplex
OTOAP1
girirajan_11_ASD_discovery_cases-Si66
Unknown
Simplex
OTOAP1
girirajan_12_ASD/DD/ID_discovery_cases-case1023
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1024
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1025
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1026
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1027
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1028
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1029
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1030
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1031
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1032
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1033
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1034
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1035
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1036
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1037
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1038
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1039
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1040
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1041
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1042
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1043
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1044
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1045
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1046
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1047
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1048
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1049
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1050
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1051
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1052
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1053
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1054
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1055
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1056
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1057
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1058
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1059
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1060
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1061
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1062
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1063
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1064
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1065
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1066
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1067
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1068
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1069
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1070
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1071
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1072
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1073
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1074
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1075
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1076
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1077
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1078
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1079
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1080
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1081
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1082
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1083
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1084
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1085
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case1086
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case24781
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case30323
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case31898
FISH, aCGH, or confirmation by inheritance
Paternal
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case34937
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case39259
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case42977
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case43670
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_cases-case52882
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_13b_ASD_discovery_cases-1709110692
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-21908109957
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-24609111458
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-3007107649
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-8905102822
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-909110667
Unknown
Unknown
Unknown
girirajan_13b_ASD_discovery_cases-9106105625
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000005
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000795
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001036
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001053
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002211
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003783
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004048
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004147
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004158
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004174
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004181
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004475
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004665
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004722
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004842
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004950
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005165
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005252
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005266
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005277
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005423
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SUB1P4,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,SCNN1G,SCNN1B,USP31
krumm_15_ASD_discovery_cases-case11458.p1
Illumina 1M
Maternal
Simplex
Segregated
SLC5A11
krumm_15_ASD_discovery_cases-case12302.p1
1M-Duov3
De novo
Simplex
Segregated
AQP8,ZKSCAN2
krumm_15_ASD_discovery_cases-case14017.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
C16orf82,EEF1A1P38,LINC02129,KDM8,NSMCE1
kushima_18_ASD_discovery_cases-caseASD0073
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
kushima_18_SCZ_discovery_cases-caseSCZ0601
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
kushima_18_SCZ_discovery_cases-caseSCZ0921
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
levy_11_ASD_discovery_cases-11030.p1
Maternal
Simplex
Not segregated
HS3ST2
levy_11_ASD_discovery_cases-11458.p1
Maternal
Simplex
Segregated
SLC5A11
levy_11_ASD_discovery_cases-11775.p1
Maternal
Simplex
Not segregated
C16orf82
levy_11_ASD_discovery_cases-11834.p1
Paternal
Simplex
Segregated
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
marshall_08_ASD_discovery_cases-MM0289-003
qPCR, qmPCR
Maternal
Multiplex
NA
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
morrow_08_ASD_discovery_cases-case3301
Maternal
NA
NA
5' end of HS3ST2
pinto_10_ASD_discovery_cases-case14071_1240
qPCR-Paternal
paternal
NA
NA
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
pinto_10_ASD_discovery_cases-case3174_003
qPCR-Paternal,Agilent1M
paternal
Multiplex
Segregated
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
pinto_10_ASD_discovery_cases-case5366_5
Agilent1M
pcnv-maternal
NA
NA
OTOAP1
pinto_10_ASD_discovery_cases-case6261_3
qPCR-Maternal
maternal
NA
NA
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,VWA3A,EEF2K,CDR2,MOSMO
pinto_14_ASD_discovery_cases2-case14335_4490
Validation not attempted
Maternal
Simplex
Unknown (not tested)
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,VWA3A,EEF2K,CDR2,MOSMO
pinto_14_ASD_discovery_cases2-case9809_202
Validation not attempted
Unknown (not maternal)
Simplex
(not tested)
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,VWA3A,EEF2K,CDR2,MOSMO
prasad_12_ASD_discovery_cases-case139459L
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP99-146a1
Not tested by qPCR
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,VWA3A,EEF2K,CDR2,MOSMO
sanders_11_ASD_discovery_cases-11030.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HS3ST2
sanders_11_ASD_discovery_cases-11458.p1
Maternal
Simplex (quad-proband matched)
Segregated
SLC5A11
sanders_11_ASD_discovery_cases-11506.p1
Maternal
Simplex (trio)
NA
NDUFAB1
sanders_11_ASD_discovery_cases-11693.p1
Maternal
Simplex (trio)
NA
HS3ST4
sanders_11_ASD_discovery_cases-11775.p1
Maternal
Simplex (quad-proband matched)
Not segregated
C16orf82
sanders_11_ASD_discovery_cases-11834.p1
Paternal
Simplex (quad-proband matched)
Segregated
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,VWA3A,EEF2K,CDR2,MOSMO
sanders_11_ASD_discovery_cases-11869.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11989.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12076.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12271.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PALB2,NDUFAB1
sanders_11_ASD_discovery_cases-12289.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NDUFAB1
sanders_11_ASD_discovery_cases-12366.p1
Both parents
Simplex (quad-proband matched)
Segregated
NSMCE1
sanders_11_ASD_discovery_cases-12534.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12572.p1
Paternal
Simplex (quad-proband matched)
Segregated
NDUFAB1
sanders_11_ASD_discovery_cases-12674.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12682.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12843.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
NDUFAB1
sanders_11_ASD_discovery_cases-12930.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NDUFAB1
sanders_11_ASD_discovery_cases-13018.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13031.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13174.p1
Unknown
Simplex (quad-proband matched)
Not segregated
xu_16_ASD/DD/ID_discovery_cases-case22
Paternal
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
yuen_16_ASD_discovery_cases-sample2-1361-003
qPCR and/or Sanger sequencing
De novo
Simplex
Segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB425638_1007872643
Unknown
NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P4,VWA3A,EEF2K,CDR2,MOSMO
engchuan_15_ASD_discovery_controls-controlB483586_1007842342
Unknown
OTOAP1
engchuan_15_ASD_discovery_controls-controlB490963_1007853895
Unknown
engchuan_15_ASD_discovery_controls-controlB536568_1007854032
Unknown
OTOAP1
engchuan_15_ASD_discovery_controls-controlB624090_1007853967
Unknown
engchuan_15_ASD_discovery_controls-controlB709920_1007843547
Unknown
OTOAP1
engchuan_15_ASD_discovery_controls-controlB779589_1007853847
Unknown
OTOAP1
engchuan_15_ASD_discovery_controls-controlB886417_1007872528
Unknown
KIAA0556
engchuan_15_ASD_discovery_controls-controlB910439_1007845334
Unknown
OTOAP1
engchuan_15_ASD_discovery_controls-controlB916582_1007854385
Unknown
OTOAP1
engchuan_15_ASD_discovery_controls-controlB957019_1007844002
Unknown
OTOAP1
engchuan_15_ASD_discovery_controls-controlB972803_1007842434
Unknown
engchuan_15_ASD_discovery_controls-controlB988624_1007854912
Unknown
OTOAP1
engchuan_15_ASD_discovery_controls-controlHABC_900349_900349
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900353_900353
Unknown
MFSD13B,RRN3P3,CDR2
engchuan_15_ASD_discovery_controls-controlHABC_900545_900545
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900716_900716
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900927_900927
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900989_900989
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901007_901007
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901219_901219
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901266_901266
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902481_902481
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902562_902562
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902564_902564
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902571_902571
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902611_902611
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902744_902744
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902800_902800
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_11_ASD_discovery_controls-NIMH_223
Unknown
girirajan_12_ASD/DD/ID_discovery_controls-control91
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_controls-control92
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_controls-control93
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_12_ASD/DD/ID_discovery_controls-control94
NA
Unknown
Unknown
Unknown
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,VWA3A,EEF2K,CDR2,MOSMO
girirajan_13b_ASD_discovery_controls-10608109423
Unknown
girirajan_13b_ASD_discovery_controls-1105102542
Unknown
girirajan_13b_ASD_discovery_controls-11105103556
Unknown
girirajan_13b_ASD_discovery_controls-17203100441
Unknown
girirajan_13b_ASD_discovery_controls-33505103850
Unknown
girirajan_13b_ASD_discovery_controls-35706106616
Unknown
girirajan_13b_ASD_discovery_controls-42606106877
Unknown
girirajan_13b_ASD_discovery_controls-46806107025
Unknown
girirajan_13b_ASD_discovery_controls-49206107109
Unknown
girirajan_13b_ASD_discovery_controls-9507107845
Unknown
itsara_10_ASD_discovery_controls_1-HI0267
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,VWA3A,EEF2K,CDR2,MOSMO
levy_11_ASD_discovery_controls-11030.s1
Maternal
Simplex
NA
HS3ST2
levy_11_ASD_discovery_controls-11775.s1
Maternal
Simplex
NA
C16orf82
levy_11_ASD_discovery_controls-12100.s1
Paternal
Simplex
NA
USP31
sanders_11_ASD_discovery_controls-11030.s1
Maternal
Simplex (quad)
NA
HS3ST2
sanders_11_ASD_discovery_controls-11720.s1
Unknown
Simplex (quad)
NA
PALB2,NDUFAB1
sanders_11_ASD_discovery_controls-11775.s1
Maternal
Simplex (quad)
NA
C16orf82
sanders_11_ASD_discovery_controls-12517.s1
Unknown
Simplex (quad)
NA
NDUFAB1
sanders_11_ASD_discovery_controls-12552.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12621.s1
Paternal
Simplex (quad)
NA
PRKCB
sanders_11_ASD_discovery_controls-12674.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12892.s1
Maternal
Simplex (quad)
NA
NDUFAB1
sanders_11_ASD_discovery_controls-13166.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13296.s1
Unknown
Simplex (quad)
NA
NDUFAB1
No Animal Model Data Available