16q23.3CNV Type: Deletion-Duplication
Largest CNV size: 1490000 bp
Statistics Box:
Number of Reports: 22
Number of Reports: 22
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-Duplication
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.
Duplication
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.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
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
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
1483798
0
1
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
176000
1
0
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
527000
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
133814
1
0
1
dharmadhikari_14_ASD/ID_discovery_cases
Four cases with 16q24.1 duplications involving the FOXF1 gene: two from Medical Genetics Laboratories at Baylor College of Medicine; one from the Medical Genetics Center, Munich, Germany; and one reported in DECIPHER (265898) from the Saint Vincent de Paul Catholic Hospitals Association of Lille, Free Faculty of Medicine, Lille, France
4
Three cases with neurodevelopmental phenotypes [case 1 diagnosed with speech delay and behavioral problems; case 2 diagnosed with autism (based on DSM-V), with additional diagnoses of unspecified mood and anxiety disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), and emotional disorder; case 4 diagnosed with speech delay, motor delay, and borderline intellectual disability]; one case (case 3) with normal psychomotor development but diagnosis with pyloric stenosis, mesenterium commune, aplasia of the appendix, and multiple sclerosis.
Range, 4 yrs. 2 mos.-47 yrs.
75% Male
510000
0
1
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
1400000
1
1
2
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
13000
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
1486192
2
4
6
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
74145
2
0
2
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
1500087
0
1
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
509000
0
1
1
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
126541
1
0
1
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
852424
0
6
6
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1453864
0
3
3
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
1500000
0
2
2
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
258000
1
0
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
13074
1
0
1
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
84300
1
1
2
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
1490000
1
1
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
1503642
2
2
4
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
1486192
8
3
11
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)
166000
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
6482
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
527000
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
516798
2
3
5
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
11531
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
76158
0
1
1
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.
22069
1
0
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
67842
2
0
2
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)
1503642
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.
74153
9
0
9
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
6482
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
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
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
aCGH (Agilent 180K)
dharmadhikari_14_ASD/ID_discovery_cases
2 cases from United States, 1 case from Germany, 1 case from France
aCGH
Agilent/BCM V8.1.1 OLIGO 180 K, Agilent/BCM V9.1.1 OLIGO 400 K, BlueGnome CytoChip v1.0 180K, Agilent 8x60K
aCGH
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
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
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
qPCR
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
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
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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
annunziata_21_ASD_discovery_cases-caseIB274
NA
M
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
82132824
83616621
1483798
GRCh38
Duplication
Yes
asadollahi_14_NDD_discovery_cases-case60245
3 yrs.
F
Noonan syndrome (developmental delay)
Mild developmental delay, borderline short stature, peripheral pulmonary stenosis. Pathogenic heterozygous variant in PTPN11 (c.922A>G; p.N308D) found in this patient, confirming diagnosis of Noonan syndrome.
82969663
83145752
176090
GRCh38
Deletion
Yes
christian_08_ASD_discovery_cases-AU079605
NA
M
ASD
NA
NA
82161629
82688479
526851
GRCh38
Duplication
Yes
costa_21_ASD_discovery_cases-caseP134
NA
M
ASD and intellectual disability
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: intellectual disability.
Intellectual disability
83282623
83416436
133814
GRCh38
Deletion
Yes
dharmadhikari_14_ASD/ID_discovery_cases-case2
13 yrs.
M
Autism
Case diagnosed with autism (based on DSM-V); additional diagnoses of unspecified mood and anxiety disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), and emotional disorder. Motor and musculoskeletal evaluation: delay in fine motor skills. Behavioral/psychiatric evaluation: extremely aggressive, poor social skills, poor eye contact. Additional medical history: other than remote history of asthma, no evidence of lung abnormalities. Growth parameters: height of 141.5 cm (12th %ile), weight of 32.95 kg (10th %ile), and head circumference of 52.5 cm (24th %ile) at age of 12 years. Family history: father diagnosed with bipolar disorder.
82181457
82694960
513504
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300046
N/A
M
Cognitive impairment
Cognitive impairment
82163949
83565972
1402024
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300140
N/A
F
Developmental delay/intellectual disability
82163949
82416665
252717
GRCh38
Deletion
No
egger_14_ASD_discovery_cases-caseA182
17 yrs. (born 1997)
F
ASD
Diagnosis: High functioning autism. Co-morbidites/additional features: none reported. Family history: not determined
Cognitive impairment (IQ 60-80)
83162620
83175693
13074
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3199_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84013110
84093178
80069
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3207_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82137762
82295275
157514
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3539_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82955372
83012185
56814
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5070_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82148003
83634195
1486193
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5366_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82782870
82907006
124137
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8633_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83248678
83302701
54024
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1317303
Autism
82350519
82370795
20277
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1439303
Autism
82410596
82484740
74145
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU077105
Autism
80722684
82222770
1500087
Unknown
Duplication
No
girirajan_13a_ASD_discovery_cases-AU079605
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
82188894
82698894
510001
GRCh38
Duplication
No
itsara_10_ASD_discovery_cases-HI2486
NA
NA
Autism
NA
NA
83966212
84092753
126542
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002592
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
83602431
84024341
421911
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003952
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
83796168
84063463
267296
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004124
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
82000870
82705128
704259
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004448
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
82040834
82893258
852425
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004472
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
82163949
82280684
116736
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004678
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
83308441
83921719
613279
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12087.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
82148730
83602594
1453865
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12614.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
84036701
84093297
56597
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13851.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
84009783
84093821
84039
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU077105
N/A
M
ASD
82148395
83631395
1483001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU079605
N/A
M
ASD
N/A
N/A
500000
GRCh37
Duplication
No
lesca_12_EP_discovery_cases-caseDZ52
NA
F
Epilepsy
Phenotype: i-CSWSS. Seizure Characteristics: None. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Normal. Cognitive regression: Yes.
83565893
83823777
257885
GRCh38
Deletion
Yes
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
83162620
83175693
13074
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-MM0310-005
NA
M
ASD
NA
NA
82381146
82392029
10884
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0203-004
NA
M
ASD
NA
NA
84012494
84096794
84301
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5070_4
NA
M
Autism
Below average language (<1%ile), no epilepsy, no dysmorphic features
Average nonverbal IQ (34%ile)
82148003
83634195
1486193
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5366_5
NA
M
ASD
NA
NA
82782870
82907006
124137
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case120919
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
81662793
81703009
40217
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case47097
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
80724835
82228476
1503642
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case56040
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
82602103
82683787
81685
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case89137
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
81373561
81503679
130119
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11453.p1
8.8
M
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
83068078
83096851
28774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11516.p1
12.8
M
Aspergers
NA
Full-scale IQ, 111; non-verbal IQ, 112; verbal IQ, 107
83162159
83174417
12259
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12087.p1
5.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 108
82148003
83634195
1486193
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12238.p1
8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ, 84
82381472
82390009
8538
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
83103621
83107562
3942
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12336.p1
4.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 132; verbal IQ, 104
83205169
83239190
34022
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12603.p1
11.7
M
Autism
NA
Full-scale IQ, 23; non-verbal IQ, 26; verbal IQ, 20
83162838
83174417
11580
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12614.p1
6.1
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
84013110
84092753
79644
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12838.p1
4.7
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 93; verbal IQ, 50
83827713
83850383
22671
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12858.p1
4.2
F
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
82684079
82732002
47924
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12984.p1
10.1
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 102; verbal IQ, 96
82131578
82183115
51538
GRCh38
Deletion
No
shen_10_ASD_discovery_cases-ASD-09-072
NA
M
ASD
NA
NA
82821463
82987744
166282
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case508
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
83008721
83015202
6482
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB520147_1007873599
N/A
N/A
Control
No previous psychiatric history
83519193
83945996
426804
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB592971_1007873531
N/A
N/A
Control
No previous psychiatric history
82182911
82693813
510903
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900425_900425
N/A
N/A
Control
No previous psychiatric history
82131578
82180194
48617
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900773_900773
N/A
N/A
Control
No previous psychiatric history
82295275
82812073
516799
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900920_900920
N/A
N/A
Control
No previous psychiatric history
82550114
82662745
112632
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1710
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
81765459
81776989
11531
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control13851.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
84017139
84093297
76159
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C26522
Control
81243993
81266061
22069
Unknown
Deletion
poultney_13_ASD_discovery_controls-control05C40145A
N/A
M
Control
NIMH Control (NIMH ID 52670)
83949448
84017289
67842
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C40811A
N/A
M
Control
NIMH Control (NIMH ID 99089)
82148729
82164196
15468
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11379.s1
8.3
F
Control (matched sibling)
NA
NA
83162159
83174417
12259
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11453.s1
8.8
F
Control (matched sibling)
NA
NA
83068078
83096851
28774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12229.s1
7.8
F
Control (matched sibling)
NA
NA
83256344
83261201
4858
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12238.s1
11
F
Control (matched sibling)
NA
NA
82381472
82390009
8538
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12335.s1
4.7
F
Control (matched sibling)
NA
NA
82899296
82915805
16510
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12623.s1
8.8
M
Control (matched sibling)
NA
NA
83162838
83174417
11580
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12858.s1
6.3
F
Control (matched sibling)
NA
NA
82684079
82732002
47924
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13035.s1
12.8
F
Control (matched sibling)
NA
NA
83162838
83174417
11580
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13104.s1
8.1
F
Control (matched sibling)
NA
NA
83819481
83893634
74154
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
annunziata_21_ASD_discovery_cases-caseIB274
qPCR, FISH
Paternal
CDH13,MIR3182,MIR8058,RN7SL134P,RN7SKP190,MPHOSPH6
asadollahi_14_NDD_discovery_cases-case60245
MLPA
Maternal
Unknown
Unknown
CDH13
christian_08_ASD_discovery_cases-AU079605
FISH, microsatellite
inherited
Multiplex
NA
RN7SKP190,MPHOSPH6,CDH13
costa_21_ASD_discovery_cases-caseP134
aCGH (Agilent 180K)
Paternal
CDH13
dharmadhikari_14_ASD/ID_discovery_cases-case2
aCGH
Possibly paternal
Paternal
Possible multi-generational (father with bipolar disorder)
Possibly segregated
RN7SKP190,MIR8058,CDH13
digregorio_17_DD/ID_discovery_cases-DECIPHER_300046
qPCR
Maternal
RN7SKP190,MIR8058,RN7SL134P,MIR3182,MPHOSPH6,CDH13
digregorio_17_DD/ID_discovery_cases-DECIPHER_300140
Unknown
RN7SKP190,MPHOSPH6
egger_14_ASD_discovery_cases-caseA182
Unknown
Unknown
CDH13
engchuan_15_ASD_discovery_cases-case3199_3
Unknown
RNA5SP432,MBTPS1,SLC38A8
engchuan_15_ASD_discovery_cases-case3207_3
Unknown
RN7SKP190,MPHOSPH6
engchuan_15_ASD_discovery_cases-case3539_4
Unknown
CDH13
engchuan_15_ASD_discovery_cases-case5070_4
Unknown
RN7SKP190,MIR8058,RN7SL134P,MIR3182,MPHOSPH6,CDH13
engchuan_15_ASD_discovery_cases-case5366_5
Unknown
RN7SL134P,CDH13
engchuan_15_ASD_discovery_cases-case8633_201
Unknown
CDH13
gai_11_ASD_discovery_cases-AU1317303
Inherited
CDH13 (intronic)
gai_11_ASD_discovery_cases-AU1439303
Inherited
0 genes
gai_11_ASD_replication_cases-AU077105
Inherited
MPHOSPH6, CDH13
girirajan_13a_ASD_discovery_cases-AU079605
Unknown
Multiplex
Unknown
RN7SKP190,MIR8058,CDH13
itsara_10_ASD_discovery_cases-HI2486
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
RNA5SP432,OSGIN1,NECAB2,MBTPS1,SLC38A8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002592
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
HSBP1,MLYCD,OSGIN1,NECAB2,SLC38A8,CDH13
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003952
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HSBP1,RNA5SP432,MLYCD,OSGIN1,NECAB2,MBTPS1,SLC38A8,CDH13
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004124
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MTCYBP28,RN7SKP190,MIR8058,SDR42E1,MPHOSPH6,HSD17B2,CDH13
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004448
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MTCYBP28,RN7SKP190,MIR8058,RN7SL134P,MPHOSPH6,HSD17B2,CDH13
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004472
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP190,MPHOSPH6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004678
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3182,HSBP1,MLYCD,CDH13
krumm_15_ASD_discovery_cases-case12087.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
RN7SKP190,MIR8058,RN7SL134P,MIR3182,MPHOSPH6,CDH13
krumm_15_ASD_discovery_cases-case12614.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RNA5SP432,MBTPS1,SLC38A8
krumm_15_ASD_discovery_cases-case13851.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RNA5SP432,MBTPS1,SLC38A8
leppa_16_ASD_discovery_cases-AU077105
Maternal
Multiplex
Not segregated (CNV not present in affected siblings)
RN7SKP190,MIR8058,RN7SL134P,MIR3182,MPHOSPH6,CDH13
leppa_16_ASD_discovery_cases-AU079605
Paternal
Multiplex
Not segregated (CNV not present in affected siblings)
CDH13
lesca_12_EP_discovery_cases-caseDZ52
qPCR
De novo
Unknown
Possibly segregated
HSBP1,CDH13
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
CDH13
marshall_08_ASD_discovery_cases-MM0310-005
qPCR, qmPCR
Unknown
NA
NA
marshall_08_ASD_discovery_cases-SK0203-004
qPCR, qmPCR
Unknown
NA
NA
RNA5SP432,MBTPS1,SLC38A8
pinto_10_ASD_discovery_cases-case5070_4
Agilent1M
maternal
Multiplex
Unknown
RN7SKP190,MIR8058,RN7SL134P,MIR3182,MPHOSPH6,CDH13
pinto_10_ASD_discovery_cases-case5366_5
Agilent1M
paternal
NA
NA
RN7SL134P,CDH13
prasad_12_ASD_discovery_cases-case120919
Unknown
Unknown
Unknown
CDH13
prasad_12_ASD_discovery_cases-case47097
Unknown
Unknown
Unknown
CDH13,MIR3182,MPHOSPH6
prasad_12_ASD_discovery_cases-case56040
Unknown
Unknown
Unknown
SLC38A8,MBTPS1
prasad_12_ASD_discovery_cases-case89137
Unknown
Unknown
Unknown
CDH13
sanders_11_ASD_discovery_cases-11453.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CDH13
sanders_11_ASD_discovery_cases-11516.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
CDH13
sanders_11_ASD_discovery_cases-12087.p1
Paternal
Simplex (trio)
NA
RN7SKP190,MIR8058,RN7SL134P,MIR3182,MPHOSPH6,CDH13
sanders_11_ASD_discovery_cases-12238.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12266.p1
Maternal
Simplex (trio)
NA
CDH13
sanders_11_ASD_discovery_cases-12336.p1
qPCR
De Novo
Simplex (trio)
NA
CDH13
sanders_11_ASD_discovery_cases-12603.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CDH13
sanders_11_ASD_discovery_cases-12614.p1
Maternal
Simplex (trio)
NA
RNA5SP432,MBTPS1,SLC38A8
sanders_11_ASD_discovery_cases-12838.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12858.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR8058,CDH13
sanders_11_ASD_discovery_cases-12984.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MPHOSPH6
shen_10_ASD_discovery_cases-ASD-09-072
Maternal
NA
NA
RN7SL134P,CDH13
yin_16_ASD_discovery_cases-case508
Unknown
Unknown
Unknown
CDH13
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB520147_1007873599
Unknown
HSBP1,MLYCD,CDH13
engchuan_15_ASD_discovery_controls-controlB592971_1007873531
Unknown
RN7SKP190,MIR8058,CDH13
engchuan_15_ASD_discovery_controls-controlHABC_900425_900425
Unknown
MPHOSPH6
engchuan_15_ASD_discovery_controls-controlHABC_900773_900773
Unknown
MIR8058,CDH13
engchuan_15_ASD_discovery_controls-controlHABC_900920_900920
Unknown
CDH13
kanduri_15_ASD_discovery_controls-control_split1710
Unknown
Intergenic CNV: nearest genes, CMIP(dist=20092),PLCG2(dist=35910)
krumm_15_ASD_discovery_controls-control13851.s1
Omni2.5-4v1
Maternal
RNA5SP432,MBTPS1,SLC38A8
nord_11_ASD_discovery_controls-04C26522
CDH13
poultney_13_ASD_discovery_controls-control05C40145A
Unknown
OSGIN1,NECAB2,SLC38A8
poultney_13_ASD_discovery_controls-control05C40811A
Unknown
MPHOSPH6
sanders_11_ASD_discovery_controls-11379.s1
Maternal
Simplex (quad)
NA
CDH13
sanders_11_ASD_discovery_controls-11453.s1
Paternal
Simplex (quad)
NA
CDH13
sanders_11_ASD_discovery_controls-12229.s1
Paternal
Simplex (quad)
NA
CDH13
sanders_11_ASD_discovery_controls-12238.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12335.s1
Maternal
Simplex (quad)
NA
CDH13
sanders_11_ASD_discovery_controls-12623.s1
Paternal
Simplex (quad)
NA
CDH13
sanders_11_ASD_discovery_controls-12858.s1
Maternal
Simplex (quad)
NA
MIR8058,CDH13
sanders_11_ASD_discovery_controls-13035.s1
Maternal
Simplex (quad)
NA
CDH13
sanders_11_ASD_discovery_controls-13104.s1
Maternal
Simplex (quad)
NA
HSBP1
No Animal Model Data Available