2p21CNV Type: Deletion-Duplication
Largest CNV size: 566238 bp
Statistics Box:
Number of Reports: 28
Number of Reports: 28
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
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
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.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Deletion
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
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
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
271168
1
0
1
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
83000
4
0
4
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
400000
0
1
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
530000
0
1
1
costa_21_ASD_discovery_cases
ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
144
Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
Range, 1-34 yrs. (mean, 7.7 yrs.)
77.08% Male
15987
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
564148
5
4
9
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
573158
0
2
2
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
402763
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
563000
0
3
3
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
916330
1
2
3
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
216132
0
4
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
263139
3
8
11
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
600000
0
3
3
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
551000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
566238
0
2
2
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
130249
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
72000
1
0
1
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
1440070
1
0
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
129338
2
0
2
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)
263143
0
2
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
137009
10
0
10
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
314059
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
564774
79
12
91
schaaf_12_ASD/DD/ID_discovery_cases
22 patients (out of 8051) referred to BCM MCL for aCGH analysis from August 2009-September 2010 with identified intragenic NRXN1 deletions, plus two additional patients recruited who had CMA testing at different laboratories (University of Iowa and Quest Diagnostics)
24
ASD (13/24), autistic features (4/24), ADHD (8/22), developmentla delay/intellectual disability (18/21), seizures (11/24), hypotonia (10/24)
Range, 16 days-30 years (age at diagnosis)
66.7% Male
238905
1
0
1
shen_10_ASD_discovery_cases
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
848
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
112000
1
0
1
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
51868
0
1
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
126000
1
0
1
wang_18_TS_discovery_cases
Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
789
Probands diagnosed with Tourette syndrome
N/A
80.57% Male
101217
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
103011
1
1
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
14896
1
0
1
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
530000
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
564148
14
3
17
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.
402763
0
0
0
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
504731
0
1
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
16741
1
0
1
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
263139
0
3
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
263139
1
4
5
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
600000
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
566238
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
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
19472
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)
137009
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.
564774
61
7
68
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
51868
0
1
1
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
103011
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
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
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
NGS (XHMM)
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
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_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
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
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
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
None
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
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
qPCR
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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
schaaf_12_ASD/DD/ID_discovery_cases
Caucasian (n=16), Hispanic (n=5), Caucasian/Hispanic (n=1), Asian (n=1), Ashkenazi Jewish (n=1)
aCGH
BCM V8 OLIGO microarray, Nimblegen Nimblechip HG18 oligo array, ClariSure CGH BACs array
None
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
wang_18_TS_discovery_cases
N/A
WES
Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
CoNIFER
qPCR
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG1823
N/A
F
Developmental delay and epilepsy
Global developmental delay, epilepsy, generalized hypotonia. Non-consanguineous parents.
Global developmental delay
44797123
45068290
271168
GRCh38
Deletion
No
asadollahi_14_NDD_discovery_cases-case50286
7.4 yrs.
F
Developmental delay
Developmental delay, hypotonia, cleft palate, growth failure, genital abnormalities. Affected sibling with overlapping hypotonia-cystinuria syndrome (53032).
44355031
44438969
83939
GRCh38
Homozygous deletion
Yes
asadollahi_14_NDD_discovery_cases-case53032
5 yrs.
M
Developmental delay
Developmental delay, hypotonia, cleft palate, growth failure, genital abnormalities. Affected sibling with overlapping hypotonia-cystinuria syndrome (50286).
44355031
44438969
83939
GRCh38
Homozygous deletion
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case23
8 yrs. 9 mos.
F
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Mild DD/ID
47141187
47573713
432527
GRCh38
Duplication
Yes
christian_08_ASD_discovery_cases-AU064004
NA
F
ASD
NA
NA
45228510
45757778
529269
GRCh38
Duplication
Yes
costa_21_ASD_discovery_cases-caseP130
NA
M
ASD and developmental delay
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: echolalia, delayed speech, food allergy and sensitivity.
43885749
43901735
15987
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case13218_2403
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45182849
45746997
564149
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14259_3820
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44210078
44305187
95110
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14284_4070
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44314586
44435336
120751
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14328_4420
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45500124
45531486
31363
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20163_1672002
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45084081
45234746
150666
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20169_1431001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45183539
45746997
563459
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3034_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44280074
44351759
71686
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3042_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
44473990
44516160
42171
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8568_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
45182849
45746997
564149
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU082104
Autism
45258553
45827640
569088
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU082105
Autism
45261773
45834930
573158
Unknown
Duplication
No
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.
41633042
42035805
402764
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-12729.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
45189357
45739357
550001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13337.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
45189357
45749357
560001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13760.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
45189357
45749357
560001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002580
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
41999414
42915744
916331
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002691
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
44286091
44372899
86809
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004879
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
45273296
45954468
681173
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11118.p1
N/A
F
ASD
ASD proband from SSC quad family 11118. SRS score of 80.
Full-scale IQ (FSIQ) score of 93.
44299970
44313951
13982
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11472.p1
N/A
F
ASD
ASD proband from SSC quad family 11472. SRS score of 90.
Full-scale IQ (FSIQ) score of 30.
44299970
44313951
13982
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12729.p1
N/A
F
ASD
ASD proband from SSC quad family 12729. SRS score of 90.
Full-scale IQ (FSIQ) score of 74.
45389309
45605441
216133
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12826.p1
N/A
F
ASD
ASD proband from SSC quad family 12826. SRS score of 90.
Full-scale IQ (FSIQ) score of 66.
43844506
43846311
1806
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11118.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
44301002
44313951
12950
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11472.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
44299970
44313951
13982
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12086.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
45389309
45605441
216133
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12729.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
45389309
45599835
210527
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13160.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
44299970
44313953
13984
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13300.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
43527878
43592392
64515
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13506.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
44281386
44313951
32566
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13621.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
46581477
46617298
35822
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13760.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
45389309
45652448
263140
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14045.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
44299970
44313951
13982
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14304.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
42245504
42286379
40876
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_cases-AU064004
N/A
F
ASD
45183861
45746861
563001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU082104
N/A
F
ASD
45183861
45746861
563001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU082105
N/A
M
ASD
45183861
45746861
563001
GRCh38
Duplication
No
lesca_12_EP_discovery_cases-caseDZ98
NA
M
Epilepsy
Phenotype: LKS-woESES. Seizure Characteristics: FS, absences. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Normal. Cognitive regression: Yes. Verbal IQ 86, performance IQ 121 (at 8 years of age).
45183133
45734443
551311
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11038.p1
NA
M
ASD
NA
NA
44288485
44316688
28204
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12086.p1
NA
M
ASD
NA
NA
45182277
45748514
566238
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-NA0055-000
NA
M
ASD
NA
NA
41819409
41949657
130249
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam1138Proband10792
N/A
M
ASD
Additional clinical profile info N/A
No ID
44246834
44318437
71604
GRCh38
Deletion
No
pfundt_16_NDD_discovery_cases-case123
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: 2p21 Microdeletion Syndrome
43979825
45419895
1440071
GRCh38
Deletion
No
pfundt_16_nonNDD_discovery_cases-case21
N/A
N/A
Non-NDD
Disease cohort: complex phenotype. Description: 2p21 Microdeletion Syndrome
44229992
44346391
116400
GRCh38
Deletion
No
pfundt_16_nonNDD_discovery_cases-case63
N/A
N/A
Non-NDD
Disease cohort: muscle disorder. Description: 2p21 Microdeletion Syndrome
44230412
44359750
129339
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case01HI2133A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU082104; NDAR ID NDAR_INVGV651LZC)
45389308
45652450
263143
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case01HI2215A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU064004; NDAR ID NDAR_INVVA161FE2)
45389308
45652450
263143
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case100572L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
43343022
43410743
67722
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case107433
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
47544006
47570598
26593
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case115810L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
41900069
42037077
137009
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case115818L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
44294183
44303250
9068
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case133399
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
44000977
44010683
9707
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case146439L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
41649532
41689822
40291
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case57842L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
42487411
42499891
12481
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59902L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
42288400
42313956
25557
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case72057
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
42487411
42499891
12481
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-caseMM0234-5
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
42487411
42499891
12481
Unknown
Deletion
No
rosenfeld_10_ASD_discovery_cases-case8892
NA
NA
ASD
NA
NA
45982964
46297023
314059
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11008.p1
15.3
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 119; verbal IQ, 133
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11011.p1
8.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11038.p1
7.6
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 82; verbal IQ, 67
44285832
44318437
32606
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11046.p1
6.6
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 62
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11047.p1
10.4
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 74; verbal IQ, 36
44001242
44051143
49902
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
44239960
44241780
1821
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
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11053.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 77
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11059.p1
6.6
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 103; verbal IQ, 119
44232091
44240933
8843
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11060.p1
6.4
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ 93
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11063.p1
9.3
M
Aspergers
NA
Full-scale IQ, 101; non-verbal IQ, 101; verbal IQ, 103
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11066.p1
8.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ 86
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11098.p1
9.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11106.p1
6.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 51
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11115.p1
13.8
F
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11118.p1
11.7
F
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 104; verbal IQ, 77
44292003
44318437
26435
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11131.p1
7.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
44239960
44241780
1821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11141.p1
6.7
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
44239960
44241780
1821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11142.p1
7.9
M
Autism
NA
Full-scale IQ, 44; non-verbal IQ, 53; verbal IQ, 31
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11156.p1
13.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 96
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11172.p1
15.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 60; verbal IQ, 70
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11178.p1
9.3
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 119; verbal IQ, 103
44239960
44242610
2651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11189.p1
14.5
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 77; verbal IQ, 37
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11198.p1
11.9
M
Autism
NA
Full-scale IQ, 120; non-verbal IQ, 115; verbal IQ, 123
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11200.p1
6.8
M
Autism
NA
Full-scale IQ, 135; non-verbal IQ, 128; verbal IQ, 134
41658633
42026606
367974
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
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11207.p1
14.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 91; verbal IQ, 70
44239960
44242610
2651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11216.p1
4.7
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 97; verbal IQ, 57
44239960
44241780
1821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11224.p1
8.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 112; verbal IQ, 136
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11225.p1
11.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 98; verbal IQ 120
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11227.p1
9.7
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11245.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
44089774
44093116
3343
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11249.p1
5.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ 74
44240228
44240933
706
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11250.p1
14.8
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 124; verbal IQ, 86
44239960
44241780
1821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11251.p1
7.3
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 84; verbal IQ, 88
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11256.p1
11.3
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 127; verbal IQ, 98
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11264.p1
10.7
F
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 88; verbal IQ 80
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11266.p1
4.3
F
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 78
45084081
45101267
17187
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11267.p1
13.2
F
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 79
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11285.p1
15.3
M
Autism
NA
Full-scale IQ, 13; non-verbal IQ, 20; verbal IQ, 5
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11307.p1
16.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 84; verbal IQ, 104
44239960
44242610
2651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11322.p1
4.2
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11336.p1
10.4
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11350.p1
9.1
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 92; verbal IQ, 93
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11364.p1
10.1
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 106; verbal IQ, 104
44239960
44241780
1821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11375.p1
6.2
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 115; verbal IQ, 93
44239960
44242610
2651
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
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11422.p1
6.1
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 96; verbal IQ, 106
44239960
44241780
1821
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
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11432.p1
6.5
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11436.p1
4.8
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
44239960
44242610
2651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11450.p1
5.8
M
ASD
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11455.p1
7.6
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 69
44232091
44240933
8843
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
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11469.p1
15.9
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 97; verbal IQ, 128
44232091
44240933
8843
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11472.p1
13.7
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
44292003
44318437
26435
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11473.p1
11.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11483.p1
9.9
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 80; verbal IQ, 89
44091513
44093116
1604
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11495.p1
5.2
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 120
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11502.p1
16.1
F
Autism
NA
Full-scale IQ, 154; non-verbal IQ, 148; verbal IQ, 145
44473990
44516160
42171
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11510.p1
8.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11511.p1
10.6
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
44239960
44240933
974
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
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11523.p1
6.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 72
44239960
44241780
1821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11524.p1
15.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 116; verbal IQ, 109
44239960
44241780
1821
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
44232091
44242610
10520
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11536.p1
5.8
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11544.p1
15.5
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 112; verbal IQ, 113
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11555.p1
9.1
F
Aspergers
NA
Full-scale IQ, 95; non-verbal IQ, 98; verbal IQ, 91
44239960
44242610
2651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11563.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 101; verbal IQ, 110
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11577.p1
14.5
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 100; verbal IQ, 73
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11590.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
42345535
42352931
7397
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11679.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84
44596848
44629310
32463
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11782.p1
5.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64
44240228
44240933
706
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
46646917
46649496
2580
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11940.p1
8.3
F
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 109; verbal IQ, 121
44516160
44532520
16361
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
44516160
44532520
16361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11998.p1
5.2
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 103; verbal IQ, 111
45084081
45101267
17187
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12010.p1
10
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
44516160
44532520
16361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12010.p1
10
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
44292003
44318437
26435
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12071.p1
11.7
F
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 102; verbal IQ, 112
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12086.p1
14.5
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 108; verbal IQ, 131
45180603
45745377
564775
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12323.p1
10.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 92
44240228
44240933
706
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12345.p1
11.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
46424541
46443802
19262
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12418.p1
13.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
47224843
47365955
141113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12451.p1
9.6
M
ASD
NA
Full-scale IQ, 75; non-verbal IQ, 77; verbal IQ, 77
45084081
45101267
17187
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12597.p1
6.4
M
Autism
NA
Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 66
44091513
44093116
1604
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12729.p1
17
F
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 80; verbal IQ, 70
45182849
45746997
564149
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12735.p1
10.7
M
ASD
NA
Full-scale IQ, 55; non-verbal IQ, 53; verbal IQ, 59
42091824
42143315
51492
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12851.p1
4.7
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
41555996
41820716
264721
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13337.p1
5.1
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
45182849
45746997
564149
GRCh38
Duplication
No
schaaf_12_ASD/DD/ID_discovery_cases-caseI4
6 years
M
PDD-NOS
Autism: PDD-NOS. ADHD: Yes. Developmental milestones: sitting, 6 mo; walking, 12 mo; first word, 7 mo. Seizures: None. EEG: None. Brain MRI: None. Hypotonia: none. Motor coordination defects: none. Congenital anomalies: None. Dysmorphic features: Mild slanting of the palpebral fissures, broad nasal tip, smooth philtrum. Growth parameters: weight (%ile), 75; length (%ile), 50; FOC (%ile), 50. Ethnicity: Caucasian. Vision: Normal. Hearing: Normal.
FS IQ 88, verbal 95, performance 84
45073440
45312345
238906
GRCh38
Deletion
No
shen_10_ASD_discovery_cases-ASD-09-031
NA
F
ASD
NA
NA
47379756
47492105
112350
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family1_Twin_1
N/A
N/A
ASD/NDD
Case is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group
43837917
43889784
51868
GRCh38
Duplication
No
tzetis_12_DD/ID_discovery_cases-case10
M
Epilepsy
Ataxia, seizures, hand tremor, dysarthria, scoliosis, camptodactyly, abnormal brain MRI (Iron deposition and cortical brain atrophy of left posterior frontal & parietal lobe))
4571341
4697407
126067
GRCh38
Deletion
No
wang_18_TS_discovery_cases-caseM_Gre_48.p1
N/A
N/A
Tourette syndrome
Tourette syndrome proband from phase 2 cohort; no additional clinical information available
43485233
43586449
101217
GRCh38
Deletion
Yes
yin_16_ASD_discovery_cases-case59
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
41804186
41907196
103011
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case60
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
43189397
43239480
50084
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC04065
N/A
M
Control
Control from SSC cohort
47452339
47467235
14897
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlB177474_0057061567
N/A
N/A
Control
No previous psychiatric history
44280074
44351759
71686
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB323068_1007875284
N/A
N/A
Control
No previous psychiatric history
44222551
44351759
129209
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB435595_1007840518
N/A
N/A
Control
No previous psychiatric history
45355180
45582175
226996
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB542076_0067942602
N/A
N/A
Control
No previous psychiatric history
44222551
44351759
129209
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB655980_1007875789
N/A
N/A
Control
No previous psychiatric history
43382888
43437562
54675
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB758965_1007853962
N/A
N/A
Control
No previous psychiatric history
43119650
43158995
39346
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB814504_1007872259
N/A
N/A
Control
No previous psychiatric history
41587034
41626514
39481
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900046_900046
N/A
N/A
Control
No previous psychiatric history
41605738
41654262
48525
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900066_900066
N/A
N/A
Control
No previous psychiatric history
45182849
45744908
562060
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900264_900264
N/A
N/A
Control
No previous psychiatric history
44285832
44318437
32606
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900524_900524
N/A
N/A
Control
No previous psychiatric history
41707662
41968054
260393
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900835_900835
N/A
N/A
Control
No previous psychiatric history
43619414
43765436
146023
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900864_900864
N/A
N/A
Control
No previous psychiatric history
45182849
45746997
564149
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901022_901022
N/A
N/A
Control
No previous psychiatric history
44221493
44351759
130267
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901137_901137
N/A
N/A
Control
No previous psychiatric history
44390494
44524864
134371
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902794_902794
N/A
N/A
Control
No previous psychiatric history
44240228
44351759
111532
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_903010_902736
N/A
N/A
Control
No previous psychiatric history
45360928
45394488
33561
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-38206106769
N/A
N/A
Control
Ethnicity: Caucasian
N/A
45233312
45738043
504732
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split249
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
47590034
47606774
16741
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control11118.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11118. SRS score of 51.
44299970
44313951
13982
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control11472.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11472. SRS score of 41.
44299970
44313951
13982
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control12729.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12729. SRS score of 37.
45389309
45652448
263140
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11305.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
44299970
44390305
90336
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11472.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
44299970
44313951
13982
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12729.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
45389309
45652448
263140
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13160.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
44299970
44313953
13984
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13300.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
43527878
43592392
64515
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_controls-AU2312301
N/A
M
Control
Unaffected sibling
45182861
45746861
564001
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11038.s1
NA
F
Control
NA
NA
44288485
44316688
28204
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11723.s1
NA
F
Control
NA
NA
43251871
43280110
28240
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-12086.s1
NA
M
Control
NA
NA
45182277
45748514
566238
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27962
Control
42983896
43003367
19472
Unknown
Duplication
nord_11_ASD_discovery_controls-04C28230
Control
42487532
42499676
12145
Unknown
Deletion
sanders_11_ASD_discovery_controls-11014.s1
5
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11038.s1
6.5
F
Control (matched sibling)
NA
NA
44292003
44317973
25971
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11053.s1
13.3
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11055.s1
11.3
F
Control (matched sibling)
NA
NA
44447012
44456080
9069
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11063.s1
7.3
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11074.s1
7.3
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11096.s1
11.7
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11106.s1
7.2
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11118.s1
13.4
M
Control (matched sibling)
NA
NA
44292003
44318437
26435
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11118.s1
13.4
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11154.s1
9.9
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11184.s1
8.1
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11190.s1
6.8
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11195.s1
11.1
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11205.s1
4.8
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11219.s1
7
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11224.s1
7.1
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11227.s1
14.5
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11233.s1
4.7
M
Control (matched sibling)
NA
NA
44239960
44241780
1821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11234.s1
7.5
F
Control (matched sibling)
NA
NA
44239960
44241780
1821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11245.s1
14.1
M
Control (matched sibling)
NA
NA
44091513
44093116
1604
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11263.s1
15.9
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11266.s1
5.8
F
Control (matched sibling)
NA
NA
45072890
45101267
28378
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11284.s1
7.1
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11285.s1
16.4
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11289.s1
8
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11298.s1
13.4
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11299.s1
4.3
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11305.s1
18.3
M
Control (matched sibling)
NA
NA
44300525
44417118
116594
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11305.s1
18.3
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11307.s1
13.1
M
Control (matched sibling)
NA
NA
44239960
44242610
2651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11318.s1
5.7
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11336.s1
12.9
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11347.s1
17
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11349.s1
8.6
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11379.s1
8.3
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11381.s1
7.4
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11412.s1
10.5
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11415.s1
13.6
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11435.s1
23.3
M
Control (matched sibling)
NA
NA
44239960
44241780
1821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11435.s1
23.3
M
Control (matched sibling)
NA
NA
45347067
45355180
8114
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11447.s1
8.4
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11450.s1
12.5
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11472.s1
10.6
F
Control (matched sibling)
NA
NA
44292003
44318437
26435
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11473.s1
9.3
F
Control (matched sibling)
NA
NA
44239960
44242610
2651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11502.s1
13.2
M
Control (matched sibling)
NA
NA
44473990
44516160
42171
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11502.s1
13.2
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11511.s1
9
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11520.s1
10.8
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11523.s1
4.9
F
Control (matched sibling)
NA
NA
44232091
44242610
10520
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11524.s1
17.3
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11526.s1
7.9
F
Control (matched sibling)
NA
NA
44239960
44241780
1821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11541.s1
12.2
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11554.s1
4.6
M
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11563.s1
9.3
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11572.s1
14.3
F
Control (matched sibling)
NA
NA
44239960
44240933
974
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11587.s1
10.3
F
Control (matched sibling)
NA
NA
44239960
44241780
1821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11716.s1
11.6
M
Control (matched sibling)
NA
NA
47459237
47466898
7662
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11835.s1
8
M
Control (matched sibling)
NA
NA
42939542
42942286
2745
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11989.s1
8.1
F
Control (matched sibling)
NA
NA
44516160
44532520
16361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11998.s1
6.8
M
Control (matched sibling)
NA
NA
45084081
45101267
17187
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12006.s1
16.9
F
Control (matched sibling)
NA
NA
42084436
42092618
8183
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12086.s1
25.2
M
Control (matched sibling)
NA
NA
45180603
45745377
564775
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12418.s1
11.7
M
Control (matched sibling)
NA
NA
47224843
47365955
141113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12723.s1
8.7
F
Control (matched sibling)
NA
NA
44091513
44093116
1604
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12729.s1
13.5
M
Control (matched sibling)
NA
NA
45182849
45746997
564149
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13089.s1
11.1
F
Control (matched sibling)
NA
NA
44240228
44240933
706
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13171.s1
11.3
F
Control (matched sibling)
NA
NA
44516160
44532520
16361
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family1_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
43837917
43889784
51868
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG1823
Unknown
Unknown
Unknown
SIX3,LINC01833,SIX3-AS1,SIX2
asadollahi_14_NDD_discovery_cases-case50286
MLPA
Both parents
Multiplex
Segregated
PREPL,CAMKMT
asadollahi_14_NDD_discovery_cases-case53032
MLPA
Both parents
Multiplex
Segregated
PREPL,CAMKMT
battaglia_13_DD/ID/ASD_discovery_cases-case23
FISH or qPCR
Paternal
Paternal
Possible multi-generational
Segregated
BCYRN1,RN7SKP119,MIR559,CALM2,EPCAM,KCNK12,HCG2040054,STPG4,MSH2
christian_08_ASD_discovery_cases-AU064004
FISH, microsatellite
inherited
Multiplex
NA
RN7SL414P,LINC01121,SRBD1,PRKCE
costa_21_ASD_discovery_cases-caseP130
NGS (XHMM)
Paternal
RNU6-1048P,LRPPRC
engchuan_15_ASD_discovery_cases-case13218_2403
Unknown
RN7SL414P,LINC01121,SRBD1,PRKCE
engchuan_15_ASD_discovery_cases-case14259_3820
Unknown
RPL12P19,PPM1B,SLC3A1
engchuan_15_ASD_discovery_cases-case14284_4070
Unknown
PREPL,SLC3A1,CAMKMT
engchuan_15_ASD_discovery_cases-case14328_4420
Unknown
SRBD1
engchuan_15_ASD_discovery_cases-case20163_1672002
Unknown
LINC01121
engchuan_15_ASD_discovery_cases-case20169_1431001
Unknown
RN7SL414P,LINC01121,SRBD1,PRKCE
engchuan_15_ASD_discovery_cases-case3034_3
Unknown
PREPL,SLC3A1
engchuan_15_ASD_discovery_cases-case3042_4
Unknown
CAMKMT
engchuan_15_ASD_discovery_cases-case8568_201
Unknown
RN7SL414P,LINC01121,SRBD1,PRKCE
gai_11_ASD_replication_cases-AU082104
Inherited
SRBD1, PRKCE
gai_11_ASD_replication_cases-AU082105
Inherited
SRBD1, PRKCE
girirajan_11_ASD_discovery_cases-Si188
Unknown
Simplex
LDHAP3,RNU4-63P,LINC01914,LINC01913,C2orf91
girirajan_13a_ASD_discovery_cases-12729.p1
Unknown
Simplex
Unknown
RN7SL414P,LINC01121,SRBD1,PRKCE
girirajan_13a_ASD_discovery_cases-13337.p1
Unknown
Simplex
Unknown
RN7SL414P,LINC01121,SRBD1,PRKCE
girirajan_13a_ASD_discovery_cases-13760.p1
Unknown
Simplex
Unknown
RN7SL414P,LINC01121,SRBD1,PRKCE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002580
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
VDAC1P13,RNU6-137P,OXER1,FTOP1,PKDCC,HAAO,EML4,COX7A2L,KCNG3,MTA3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002691
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PREPL,SLC3A1,CAMKMT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004879
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RN7SL414P,LINC01121,SRBD1,PRKCE
krumm_13_ASD_discovery_cases-case11118.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
Not segregated
SLC3A1
krumm_13_ASD_discovery_cases-case11472.p1
Paternal
Simplex
Not segregated
SLC3A1
krumm_13_ASD_discovery_cases-case12729.p1
Paternal
Simplex
Not segregated
RN7SL414P,SRBD1
krumm_13_ASD_discovery_cases-case12826.p1
Maternal
Simplex
Segregated
ABCG8
krumm_15_ASD_discovery_cases-case11118.p1
Illumina 1M
Paternal
Simplex
Segregated
SLC3A1
krumm_15_ASD_discovery_cases-case11472.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
SLC3A1
krumm_15_ASD_discovery_cases-case12086.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RN7SL414P,SRBD1
krumm_15_ASD_discovery_cases-case12729.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
RN7SL414P,SRBD1
krumm_15_ASD_discovery_cases-case13160.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
SLC3A1
krumm_15_ASD_discovery_cases-case13300.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
THADA
krumm_15_ASD_discovery_cases-case13506.p1
1M-Duov3
Maternal
Simplex
Segregated
SLC3A1
krumm_15_ASD_discovery_cases-case13621.p1
1M-Duov3
De novo
Simplex
Not segregated (CNV in unaffected sibling)
CRIPT,RHOQ,PIGF
krumm_15_ASD_discovery_cases-case13760.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RN7SL414P,SRBD1,PRKCE
krumm_15_ASD_discovery_cases-case14045.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
SLC3A1
krumm_15_ASD_discovery_cases-case14304.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
EML4
leppa_16_ASD_discovery_cases-AU064004
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
RN7SL414P,LINC01121,SRBD1,PRKCE
leppa_16_ASD_discovery_cases-AU082104
Maternal
Multiplex
Segregated (CNV present in both affected siblings)
RN7SL414P,LINC01121,SRBD1,PRKCE
leppa_16_ASD_discovery_cases-AU082105
Maternal
Multiplex
Segregated (CNV present in both affected siblings)
RN7SL414P,LINC01121,SRBD1,PRKCE
lesca_12_EP_discovery_cases-caseDZ98
qPCR
Maternal
Unknown
Unknown
RN7SL414P,LINC01121,SRBD1,PRKCE
levy_11_ASD_discovery_cases-11038.p1
Maternal
Simplex
Not segregated
PREPL,SLC3A1
levy_11_ASD_discovery_cases-12086.p1
Maternal
Simplex
Not segregated
RN7SL414P,LINC01121,SRBD1,PRKCE
marshall_08_ASD_discovery_cases-NA0055-000
qPCR, qmPCR
Unknown
NA
NA
LDHAP3,RNU4-63P,LINC01914,LINC01913,C2orf91
nava_13_ASD_discovery_cases-Fam1138Proband10792
Paternal
Simplex
Unknown
RPL12P19,PREPL,SLC3A1
pfundt_16_NDD_discovery_cases-case123
PDSS1P2,RPL12P19,SIX3,RNU6-566P,PREPL,LINC01833,SIX3-AS1,SIX2,LRPPRC,PPM1B,SLC3A1,CAMKMT,LINC01121,SRBD1
pfundt_16_nonNDD_discovery_cases-case21
RPL12P19,PREPL,PPM1B,SLC3A1
pfundt_16_nonNDD_discovery_cases-case63
RPL12P19,PREPL,PPM1B,SLC3A1
poultney_13_ASD_discovery_cases-case01HI2133A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RN7SL414P,SRBD1,PRKCE
poultney_13_ASD_discovery_cases-case01HI2215A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RN7SL414P,SRBD1,PRKCE
prasad_12_ASD_discovery_cases-case100572L
Unknown
Unknown
Unknown
THADA
prasad_12_ASD_discovery_cases-case107433
Unknown
Unknown
Unknown
MSH2
prasad_12_ASD_discovery_cases-case115810L
Unknown
Unknown
Unknown
LOC388942
prasad_12_ASD_discovery_cases-case115818L
qPCR
Paternal
Unknown
Unknown
PPM1B
prasad_12_ASD_discovery_cases-case133399
Unknown
Unknown
Unknown
LRPPRC
prasad_12_ASD_discovery_cases-case146439L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case57842L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case59902L
Unknown
Multiplex
Unknown
EML4
prasad_12_ASD_discovery_cases-case72057
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-caseMM0234-5
Unknown
Unknown
Unknown
0 genes
rosenfeld_10_ASD_discovery_cases-case8892
FISH
Maternal
Unknown
Unknown
PRKCE
sanders_11_ASD_discovery_cases-11008.p1
Paternal
Simplex (quad-proband matched)
Segregated
PPM1B
sanders_11_ASD_discovery_cases-11011.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11038.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PREPL,SLC3A1
sanders_11_ASD_discovery_cases-11046.p1
Both parents
Simplex (quad-proband matched)
Segregated
PPM1B
sanders_11_ASD_discovery_cases-11047.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11048.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11050.p1
Both parents
Simplex (trio)
NA
PPM1B
sanders_11_ASD_discovery_cases-11053.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11059.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11060.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
PPM1B
sanders_11_ASD_discovery_cases-11063.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11066.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
PPM1B
sanders_11_ASD_discovery_cases-11098.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11106.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11115.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11118.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PREPL,SLC3A1
sanders_11_ASD_discovery_cases-11131.p1
Paternal
Simplex (trio)
NA
PPM1B
sanders_11_ASD_discovery_cases-11141.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11142.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11156.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11172.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11178.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11189.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11198.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11200.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LDHAP3,RNU4-63P,LINC01914,LINC01913,C2orf91
sanders_11_ASD_discovery_cases-11201.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11207.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11216.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11224.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11225.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
PPM1B
sanders_11_ASD_discovery_cases-11227.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11245.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11249.p1
Both parents
Simplex (trio)
NA
PPM1B
sanders_11_ASD_discovery_cases-11250.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11251.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11256.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11264.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
PPM1B
sanders_11_ASD_discovery_cases-11266.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11267.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11285.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11307.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11322.p1
Paternal
Simplex (trio)
NA
PPM1B
sanders_11_ASD_discovery_cases-11336.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11350.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11364.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11375.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11378.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11422.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11424.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11432.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11436.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11450.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11455.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11458.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11469.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11472.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PREPL,SLC3A1
sanders_11_ASD_discovery_cases-11473.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11483.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11495.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11502.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CAMKMT
sanders_11_ASD_discovery_cases-11510.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11511.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11520.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11523.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11524.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11526.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11536.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11544.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11555.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
PPM1B
sanders_11_ASD_discovery_cases-11563.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-11577.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
PPM1B
sanders_11_ASD_discovery_cases-11590.p1
Paternal
Simplex (quad-proband matched)
Not segregated
COX7A2L
sanders_11_ASD_discovery_cases-11679.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CAMKMT
sanders_11_ASD_discovery_cases-11782.p1
Paternal
Simplex (trio)
NA
PPM1B
sanders_11_ASD_discovery_cases-11794.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11940.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CAMKMT
sanders_11_ASD_discovery_cases-11989.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CAMKMT
sanders_11_ASD_discovery_cases-11998.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12010.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
CAMKMT
sanders_11_ASD_discovery_cases-12010.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
PREPL,SLC3A1
sanders_11_ASD_discovery_cases-12071.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-12086.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RN7SL414P,LINC01121,SRBD1,PRKCE
sanders_11_ASD_discovery_cases-12323.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPM1B
sanders_11_ASD_discovery_cases-12345.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02583
sanders_11_ASD_discovery_cases-12418.p1
Paternal
Simplex (quad-proband matched)
Not segregated
BCYRN1,RN7SKP119,EPCAM
sanders_11_ASD_discovery_cases-12451.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12597.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12729.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RN7SL414P,LINC01121,SRBD1,PRKCE
sanders_11_ASD_discovery_cases-12735.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12851.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LDHAP3
sanders_11_ASD_discovery_cases-13337.p1
Maternal
Simplex (trio)
NA
RN7SL414P,LINC01121,SRBD1,PRKCE
schaaf_12_ASD/DD/ID_discovery_cases-caseI4
Unknown
Unknown
Unknown
LINC01121
shen_10_ASD_discovery_cases-ASD-09-031
Unknown
NA
NA
EPCAM,MSH2
stamouli_18_ASD/NDD_discovery_cases-family1_Twin_1
Unknown
Simplex
Not segregated (CNV also present in unaffected twin)
ABCG5,ABCG8,LRPPRC
tzetis_12_DD/ID_discovery_cases-case10
Unknown
Unknown
LINC01249
wang_18_TS_discovery_cases-caseM_Gre_48.p1
qPCR
De novo
RN7SL531P,THADA
yin_16_ASD_discovery_cases-case59
Unknown
Unknown
Unknown
LDHAP3,RNU4-63P,LINC01913
yin_16_ASD_discovery_cases-case60
Unknown
Unknown
Unknown
ZFP36L2,LINC01126,THADA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC04065
SNP VCF
De novo
MSH2
engchuan_15_ASD_discovery_controls-controlB177474_0057061567
Unknown
PREPL,SLC3A1
engchuan_15_ASD_discovery_controls-controlB323068_1007875284
Unknown
RPL12P19,PREPL,PPM1B,SLC3A1
engchuan_15_ASD_discovery_controls-controlB435595_1007840518
Unknown
RN7SL414P,SRBD1
engchuan_15_ASD_discovery_controls-controlB542076_0067942602
Unknown
RPL12P19,PREPL,PPM1B,SLC3A1
engchuan_15_ASD_discovery_controls-controlB655980_1007875789
Unknown
RNU6-958P,THADA
engchuan_15_ASD_discovery_controls-controlB758965_1007853962
Unknown
engchuan_15_ASD_discovery_controls-controlB814504_1007872259
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900046_900046
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900066_900066
Unknown
RN7SL414P,LINC01121,SRBD1,PRKCE
engchuan_15_ASD_discovery_controls-controlHABC_900264_900264
Unknown
PREPL,SLC3A1
engchuan_15_ASD_discovery_controls-controlHABC_900524_900524
Unknown
LDHAP3,RNU4-63P,LINC01914,LINC01913,C2orf91
engchuan_15_ASD_discovery_controls-controlHABC_900835_900835
Unknown
C1GALT1C1L,PLEKHH2
engchuan_15_ASD_discovery_controls-controlHABC_900864_900864
Unknown
RN7SL414P,LINC01121,SRBD1,PRKCE
engchuan_15_ASD_discovery_controls-controlHABC_901022_901022
Unknown
RPL12P19,PREPL,PPM1B,SLC3A1
engchuan_15_ASD_discovery_controls-controlHABC_901137_901137
Unknown
CAMKMT
engchuan_15_ASD_discovery_controls-controlHABC_902794_902794
Unknown
RPL12P19,PREPL,PPM1B,SLC3A1
engchuan_15_ASD_discovery_controls-controlHABC_903010_902736
Unknown
SRBD1
girirajan_13b_ASD_discovery_controls-38206106769
Unknown
RN7SL414P,LINC01121,SRBD1,PRKCE
kanduri_15_ASD_discovery_controls-control_split249
Unknown
EPCAM
krumm_13_ASD_discovery_controls-control11118.s1
Paternal
Simplex
SLC3A1
krumm_13_ASD_discovery_controls-control11472.s1
Paternal
Simplex
SLC3A1
krumm_13_ASD_discovery_controls-control12729.s1
Paternal
Simplex
RN7SL414P,SRBD1,PRKCE
krumm_15_ASD_discovery_controls-control11305.s1
Illumina 1M
Maternal
PREPL,SLC3A1,CAMKMT
krumm_15_ASD_discovery_controls-control11472.s1
Illumina 1MDuo
Paternal
SLC3A1
krumm_15_ASD_discovery_controls-control12729.s1
Illumina 1MDuo
Paternal
RN7SL414P,SRBD1,PRKCE
krumm_15_ASD_discovery_controls-control13160.s1
1M-Duov3
Maternal
SLC3A1
krumm_15_ASD_discovery_controls-control13300.s1
1M-Duov3
Maternal
THADA
leppa_16_ASD_discovery_controls-AU2312301
Paternal
Multiplex
RN7SL414P,LINC01121,SRBD1,PRKCE
levy_11_ASD_discovery_controls-11038.s1
Maternal
Simplex
NA
PREPL,SLC3A1
levy_11_ASD_discovery_controls-11723.s1
Maternal
Simplex
NA
THADA
levy_11_ASD_discovery_controls-12086.s1
Maternal
Simplex
NA
RN7SL414P,LINC01121,SRBD1,PRKCE
nord_11_ASD_discovery_controls-04C27962
0 genes
nord_11_ASD_discovery_controls-04C28230
0 genes
sanders_11_ASD_discovery_controls-11014.s1
Maternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11038.s1
Maternal
Simplex (quad)
NA
PREPL,SLC3A1
sanders_11_ASD_discovery_controls-11053.s1
Paternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11055.s1
Paternal
Simplex (quad)
NA
CAMKMT
sanders_11_ASD_discovery_controls-11063.s1
Paternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11074.s1
Maternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11096.s1
Maternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11106.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11118.s1
Paternal
Simplex (quad)
NA
PREPL,SLC3A1
sanders_11_ASD_discovery_controls-11118.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11154.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11184.s1
Paternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11190.s1
Paternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11195.s1
Paternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11205.s1
Maternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11219.s1
Paternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11224.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11227.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11233.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11234.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11245.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11263.s1
Maternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11266.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11284.s1
Maternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11285.s1
Maternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11289.s1
Paternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11298.s1
Paternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11299.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11305.s1
Maternal
Simplex (quad)
NA
PREPL,SLC3A1,CAMKMT
sanders_11_ASD_discovery_controls-11305.s1
Paternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11307.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11318.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11336.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11347.s1
Paternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11349.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11379.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11381.s1
Maternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11412.s1
Maternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11415.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11435.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11435.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11447.s1
Paternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11450.s1
Maternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11472.s1
Paternal
Simplex (quad)
NA
PREPL,SLC3A1
sanders_11_ASD_discovery_controls-11473.s1
Maternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11502.s1
Maternal
Simplex (quad)
NA
CAMKMT
sanders_11_ASD_discovery_controls-11502.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11511.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11520.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11523.s1
Maternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11524.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11526.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11541.s1
Maternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11554.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11563.s1
Maternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11572.s1
Maternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11587.s1
Paternal
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-11716.s1
Unknown
Simplex (quad)
NA
MSH2
sanders_11_ASD_discovery_controls-11835.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11989.s1
Paternal
Simplex (quad)
NA
CAMKMT
sanders_11_ASD_discovery_controls-11998.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12006.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12086.s1
Maternal
Simplex (quad)
NA
RN7SL414P,LINC01121,SRBD1,PRKCE
sanders_11_ASD_discovery_controls-12418.s1
Paternal
Simplex (quad)
NA
BCYRN1,RN7SKP119,EPCAM
sanders_11_ASD_discovery_controls-12723.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12729.s1
Paternal
Simplex (quad)
NA
RN7SL414P,LINC01121,SRBD1,PRKCE
sanders_11_ASD_discovery_controls-13089.s1
Both parents
Simplex (quad)
NA
PPM1B
sanders_11_ASD_discovery_controls-13171.s1
Maternal
Simplex (quad)
NA
CAMKMT
stamouli_18_ASD/NDD_discovery_controls-family1_Twin_2
Unknown
Simplex
ABCG5,ABCG8,LRPPRC
No Animal Model Data Available