1p13.3CNV Type: Deletion-Duplication
Largest CNV size: 200284 bp
Statistics Box:
Number of Reports: 24
Number of Reports: 24
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and 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.
Deletion
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Deletion
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
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
170382
1
0
1
ben-mahmoud_22_ASD/SCZ/DD/ID_discovery_cases
Subjects with 1p13.3 microdeletions with an overlapping phenotype of developmental delay, intellectual disability, autism, epilepsy, and craniofacial anomalies.
3
All three cases presented with developmental delay and intellectual disability, while one case also presented with autism spectrum disorder, schizophrenia, and epilepsy.
Range, 6-44 yrs.
33.33% Male
3431433
3
0
3
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
1541
1
0
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
5665
1
1
2
chilian_13_DD/ID_discovery_cases
Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
1
Severe DD/ID, language impairment, behavioral abnormalities
5 yrs.
Male
18219
1
0
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
186801
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
46566
2
0
2
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
284190
0
1
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
308021
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
32619
4
2
6
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
30731
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
41596
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
200284
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
107000
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
46567
1
0
1
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)
42449
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
205674
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
66983
2
0
2
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
41823
24
4
28
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
408000
0
1
1
tropeano_16_ASD/NDD_replication_cases
Cases with neurodevelopmental disorders (NDD), including ASD, referred for clinical genetic testing in the United Kingdom [n=9650; Brain and Body Genetic Resource Exchange (BBGRE)] and Canada (n=9207; the Hospital for Sick Children, Toronto, Canada)
18857
Cases present with one or more of the following reasons for referral for genetic testing: ASD (n=3541), developmental delay, neurocognitive disability, ADHD, psychoses and other behavioral abnormalities, speech/language delay, learning disability, motor delay, microcephaly, macrocephaly, structural brain abnormality, epilepsy/seizures, abnormal muscle tone, and other neurological problems.
N/A
BBGRE cohort, 67% Male; Hospit
199708
1
0
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
18570
0
1
1
xu_08_WAGR/ASD/DD/ID_discovery_cases
Patients with WAGR syndrome and de novo deletions in the 11p14-p12 region previously detected by FISH
31
All 31 patients diagnosed with WAGR syndrome; neurodevelopmental comorbidities within this cohort include intellectual disability, developmental delay, autism, ADHD, seizures, anxiety, obsessive-compulsive behaviors, and speech delay/speech disorder
Range, 3-46 yrs.
45.16% Male
65000
0
3
3
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
316125
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
529322
1
0
1
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
219625
2
1
3
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.
62956
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
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
3737
1
0
1
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
41596
1
0
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
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)
28869
1
0
1
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)
205674
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.
38899
21
0
21
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
316125
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
ben-mahmoud_22_ASD/SCZ/DD/ID_discovery_cases
NA
FISH, aCGH
NA
NA
NA
None
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
chilian_13_DD/ID_discovery_cases
Germany
aCGH
Agilent Human Genome CGH Microarray 244A
None
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
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
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
tropeano_16_ASD/NDD_replication_cases
United Kingdom and Canada
aCGH
Agilent 60K, OGT Cytosure 4x180K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench, Agilent Feature Extraction v.10.7.11, OGT Cyt
None
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
xu_08_WAGR/ASD/DD/ID_discovery_cases
N/A
aCGH
Agilent 4x44K, custom Agilent array
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
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)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
qPCR
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
akter_23_ASD/ADHD/DD/ID_discovery_cases-case144
1 yr.
F
Developmental delay
Syndromic child, developmental delay (yet can not sit, poor neck control, no speech), sleeping problem at night, lack of social response. Birth/neonatal history: after birth, 2 days eyes closed; breathing with oxygen and needed blood transfusion; pneumonia occurred on 28 days. Growth parameters: height 0.68 m, weight 8 kg, head circumference 42 cm. Family history: born to consanguineous parents.
108051972
108222353
170382
GRCh38
Deletion
No
ben-mahmoud_22_ASD/SCZ/DD/ID_discovery_cases-case1
44 yrs.
F
ASD, schizophrenia, developmental delay, intellectual disability, and epilepsy/seizures
Developmental milestones: severe developmental delay, speech/language delay, motor milestones were of poor quality and out of the usual order. Motor and musculoskeletal evaluation: walks with arched feet, cramps in the legs and arms, held hands at odd angles and held objects with fingertips, jerky gait, mild muscle fiber atrophy, random variation in muscle fiber size, kyphosis, lordosis. Behavioral/psychiatric evaluation: autism (did not make eye contact, autistic), childhood schizophrenia, hallucinations, obsessive compulsive behavior, mood swings, emotional breakdowns, increased violent behavior, strange night terror episodes. Epilepsy/seizures: suffered febrile seizures at 18 months, possible myoclonic seizures. Additional medical history: hearing loss, strabismus, astigmatism, mild anemia, recurring petechial rash. Dysmorphic features: delayed eruption of teeth (teeth did not appear until 20 months of age), asymmetrical skull with smaller right parietal area, ptosis, low-set and unfolded ears, high arched palate. Growth parameters: short stature. Family history: adopted.
Intellectual disability, learning disability
106697806
110129238
3431433
GRCh38
Deletion
No
ben-mahmoud_22_ASD/SCZ/DD/ID_discovery_cases-case2
11 yrs. 6 mos.
M
Developmental delay and intellectual disability
Developmental milestones: developmental delay, sat independently at 12 months, walked at 24 months, speech/language delay with first words at 36 months. Behavioral/psychiatric evaluation: deficits in attention and executive functions. Dysmorphic features: bulbous nasal tip, epicanthus, downslanted palpebral fissures, low anterior hairline, long philtrum, wide nasal bridge, thin upper lip vermillion, long ears, micrognathia, hypertelorism. Growth parameters: short stature.
Intellectual disability, severe learning difficulties
108183833
108311174
127342
GRCh38
Deletion
No
ben-mahmoud_22_ASD/SCZ/DD/ID_discovery_cases-case3
6 yrs.
F
Developmental delay and intellectual disability
Developmental milestones: developmental delay, sat independently at around 10 months, walked at 16 months, no sucking reflex as a newborn. Epilepsy/seizures: one episode of seizure. Brain imaging: small arachnoid cyst in the posterior fossa on brain MRI. Additional medical history: loose skin. Dysmorphic features: epicanthus, downslanted palpebral fissures, long philtrum, wide nasal bridge, hypertelorism, micrognathia.
Intellectual disability
108186742
108311174
124433
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-case1-0591-003
N/A
M
ASD
Case from MSSNG cohort
110342404
110343944
1541
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11076
NA
M
ASD
NA
NA
110947121
110947264
144
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11303
NA
M
ASD
NA
NA
107760870
107766535
5666
GRCh38
Duplication
No
chilian_13_DD/ID_discovery_cases-case1
5 yrs.
M
Developmental delay/intellectual disability
Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
109679123
109697342
18220
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case207
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
108170841
108357641
186801
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1265_8
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
110798535
110845101
46567
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5398_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
110806819
110845101
38283
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001775
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
107042518
107326708
284191
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1860
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
110133772
110441792
308021
Unknown
Duplication
No
krumm_15_ASD_discovery_cases-case11178.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
109757016
109758433
1418
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11939.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
108823565
108827302
3738
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12786.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
109250079
109282698
32620
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13026.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
108823369
108827305
3937
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13628.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
109172487
109200900
28414
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14268.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
108827203
108830656
3454
GRCh38
Deletion
Yes
kushima_18_SCZ_discovery_cases-caseSCZ2097
65 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
109048899
109079629
30731
GRCh38
Deletion
N/A
levy_11_ASD_discovery_cases-11897.p1
NA
M
ASD
NA
NA
109672811
109714406
41596
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-SK0174-003
NA
M
ASD
NA
NA
107791336
107991619
200284
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam681Proband7843
N/A
M
ASD
Additional clinical profile info N/A
No ID
108346655
108454057
107403
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case1265_8
NA
F
ASD
NA
NA
110798535
110845101
46567
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case03HI2637A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0973302; NDAR ID NDAR_INVTU921TFD)
108843132
108885580
42449
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case64379L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
108136597
108342270
205674
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1300-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
109142651
109206318
63668
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-005
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
108499162
108566144
66983
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
108825322
108829252
3931
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11234.p1
10.1
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 115
108825322
108829252
3931
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11376.p1
7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
108825322
108829252
3931
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
108751345
108782496
31152
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11463.p1
7.6
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 98; verbal IQ, 79
107723077
107731009
7933
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11615.p1
12.6
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 89
109059407
109062756
3350
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11710.p1
6.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
109688214
109712552
24339
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
109250560
109261579
11020
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11798.p1
4.8
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 113
108825322
108829252
3931
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11843.p1
14.3
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
108856921
108893506
36586
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11920.p1
10.8
M
Aspergers
NA
Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
108825322
108829746
4425
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11939.p1
7.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
108825322
108829746
4425
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12031.p1
13.5
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 108; verbal IQ, 133
108825322
108829252
3931
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12198.p1
8.1
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
108825322
108829252
3931
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12250.p1
10.8
F
Aspergers
NA
Full-scale IQ, 85; non-verbal IQ, 78; verbal IQ, 103
108856921
108893506
36586
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12316.p1
12.5
M
ASD
NA
Full-scale IQ, 112; non-verbal IQ, 109; verbal IQ, 114
108107111
108109832
2722
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12337.p1
11.6
M
ASD
NA
Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
108825322
108829252
3931
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12347.p1
8.8
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 125; verbal IQ, 107
108825322
108829252
3931
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12383.p1
9
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 88; verbal IQ, 90
108825322
108829746
4425
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12424.p1
4.2
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
109688214
109712552
24339
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12579.p1
6.6
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
108856295
108893506
37212
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12664.p1
11.4
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 96; verbal IQ, 89
108856921
108893506
36586
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12786.p1
7
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 87
109256099
109283514
27416
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12817.p1
9.4
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 34; verbal IQ, 37
109709850
109711119
1270
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12957.p1
9.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 92; verbal IQ, 113
108856295
108898118
41824
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12979.p1
4.7
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 68; verbal IQ, 65
108825322
108829252
3931
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13152.p1
7.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 78
108856921
108893506
36586
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13174.p1
10
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 93; verbal IQ, 126
108825322
108829746
4425
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case36
7 yrs.
M
Developmental delay/intellectual disability and ASD
Developmental delay/intellectual disability, ASD
107789441
108196988
407548
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_cases-case68
4- 10 years
M
Developmental delay
Short stature, developmental delay, speech and language delay. Family history: Father attended a special school, current alcohol/drug abuse (not available for testing); Grandfather (paternal) had dyslexia; Grandmother (maternal) has severe depression.
108136964
108336672
199709
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
109681762
109700331
18570
GRCh38
Duplication
No
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF19a
5 yrs.
M
WAGR syndrome, ASD, DD, and ID
Autism, developmental delay, speech disorder
Intellectual disability
109541367
109606350
64984
GRCh38
Duplication
No
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF20a
15 yrs.
M
WAGR syndrome, ASD, DD, and ID
Autism, developmental delay, anxiety, ADHD, obsessive-compulsive, speech disorder
Intellectual disability
109541367
109606350
64984
GRCh38
Duplication
No
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF23a
16 yrs.
M
WAGR syndrome, ASD, DD, and ID
Autism, developmental delay, obsessive-compulsive, speech disorder
Intellectual disability
109541367
109606350
64984
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case28
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
108286323
108602447
316125
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case29
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
108286323
108602447
316125
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
bacchelli_20_ASD_discovery_controls-control20004
N/A
M
Control
Control
107639325
108168646
529322
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB595540_1007848526
N/A
N/A
Control
No previous psychiatric history
110798535
110845101
46567
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900033_900033
N/A
N/A
Control
No previous psychiatric history
108168646
108355596
186951
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901215_901215
N/A
N/A
Control
No previous psychiatric history
106722381
106942006
219626
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_322
NA
NA
Control
NA
NA
108310922
108373878
62957
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11665.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
108823565
108827302
3738
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11897.s1
NA
M
Control
NA
NA
109672811
109714406
41596
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C30844A
N/A
M
Control
NIMH Control (NIMH ID 71417)
108885542
108914410
28869
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11184.s1
8.1
F
Control (matched sibling)
NA
NA
108825322
108829746
4425
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11234.s1
7.5
F
Control (matched sibling)
NA
NA
108825322
108829252
3931
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11440.s1
12.5
F
Control (matched sibling)
NA
NA
108825322
108829252
3931
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11463.s1
12.7
F
Control (matched sibling)
NA
NA
107723077
107731009
7933
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11475.s1
5.5
F
Control (matched sibling)
NA
NA
108825322
108829252
3931
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11615.s1
10.7
F
Control (matched sibling)
NA
NA
109059407
109062756
3350
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11835.s1
8
M
Control (matched sibling)
NA
NA
107113734
107117748
4015
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11920.s1
18.3
M
Control (matched sibling)
NA
NA
108825322
108829252
3931
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12032.s1
7.2
F
Control (matched sibling)
NA
NA
109261579
109273338
11760
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12118.s1
14.8
F
Control (matched sibling)
NA
NA
108856921
108893506
36586
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12153.s1
16.5
F
Control (matched sibling)
NA
NA
108856921
108893506
36586
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12198.s1
11.3
M
Control (matched sibling)
NA
NA
108825322
108829252
3931
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12250.s1
6
F
Control (matched sibling)
NA
NA
108856921
108893506
36586
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12351.s1
15.3
F
Control (matched sibling)
NA
NA
108102082
108109832
7751
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12418.s1
11.7
M
Control (matched sibling)
NA
NA
108856921
108893506
36586
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12420.s1
4.7
F
Control (matched sibling)
NA
NA
108825322
108829746
4425
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12451.s1
12.3
M
Control (matched sibling)
NA
NA
106983369
106989204
5836
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12579.s1
7.8
F
Control (matched sibling)
NA
NA
108856921
108893506
36586
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12664.s1
7.9
M
Control (matched sibling)
NA
NA
108854607
108893506
38900
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12865.s1
5.8
M
Control (matched sibling)
NA
NA
108856921
108893506
36586
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13174.s1
12.8
M
Control (matched sibling)
NA
NA
108826140
108829746
3607
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case144
Unknown
SLC25A24,LINC02785
ben-mahmoud_22_ASD/SCZ/DD/ID_discovery_cases-case1
Unknown
AMPD2,ALX3,CSF1,CELSR2,SLC25A24,GPSM2,PRPF38B,PRMT6,AMIGO1,ELAPOR1,TMEM167B,EPS8L3,GPR61,STRIP1,PSRC1,HENMT1,ATXN7L2,NBPF4,FNDC7,UBL4B,GSTM3,GSTM4,GSTM5,GNAI3,GNAT2,GSTM1,GSTM2,CYB561D1,AKNAD1,SYPL2,FAM102B,MYBPHL,NDUFA4P1,MIR197,ST13P21,RPL7P8,SPATA42,NBPF6,SLC25A24P1,SCARNA2,RANP5,SLC25A24P2,NBPF5P,VAV3-AS1,PSMA5,SORT1,SARS1,RNU6V,MIR7852,NDUFA5P10,LINC01397,LINC01661,TMEM167B-DT,STXBP3,TAF13,MTCO1P14,MTATP6P14,LINC02785,LINC01768,NTNG1,VAV3,AHCYL1,CLCC1,WDR47
ben-mahmoud_22_ASD/SCZ/DD/ID_discovery_cases-case2
De novo
SLC25A24,NBPF4,SLC25A24P1
ben-mahmoud_22_ASD/SCZ/DD/ID_discovery_cases-case3
De novo
SLC25A24,NBPF4,SLC25A24P1
brandler_18_ASD_replication_cases-case1-0591-003
No validation step reported
Paternal
RBM15
celestino-soper_11_ASD_discovery_cases-11076
Unknown
Simplex
NA
LRIF1
celestino-soper_11_ASD_discovery_cases-11303
Unknown
Simplex
NA
VAV3
chilian_13_DD/ID_discovery_cases-case1
Unknown
Possibly simplex (no info on 1st child)
Unknown
GSTM2,GSTM1
cucinotta_23_ASD_discovery_cases-case207
Paternal
SLC25A24,NBPF4,SLC25A24P1
engchuan_15_ASD_discovery_cases-case1265_8
Unknown
engchuan_15_ASD_discovery_cases-case5398_3
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001775
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PRMT6,NTNG1
kanduri_15_ASD_discovery_cases-case1860
Maternal
Unknown
Unknown
AMPD2,EPS8L3,GNAI3,GNAT2,GSTM1,GSTM2,GSTM3,GSTM4,GSTM5
krumm_15_ASD_discovery_cases-case11178.p1
Illumina 1M
De novo
Simplex
Segregated
GSTM5,EPS8L3
krumm_15_ASD_discovery_cases-case11939.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
AKNAD1
krumm_15_ASD_discovery_cases-case12786.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
CELSR2,PSRC1
krumm_15_ASD_discovery_cases-case13026.p1
1M-Duov3
Maternal
Simplex
Segregated
AKNAD1
krumm_15_ASD_discovery_cases-case13628.p1
1M-Duov3
Maternal
Simplex
Segregated
KIAA1324
krumm_15_ASD_discovery_cases-case14268.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
AKNAD1
kushima_18_SCZ_discovery_cases-caseSCZ2097
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
TAF13
levy_11_ASD_discovery_cases-11897.p1
Paternal
Simplex
Not segregated
GSTM4,GSTM5,GSTM2,GSTM1
marshall_08_ASD_discovery_cases-SK0174-003
qPCR, qmPCR
Unknown
NA
NA
MIR7852,VAV3-AS1,VAV3
nava_13_ASD_discovery_cases-Fam681Proband7843
Unknown
Simplex
Unknown
NBPF6,NBPF5P,SLC25A24P2
pinto_10_ASD_discovery_cases-case1265_8
Illumina550
paternal
NA
NA
poultney_13_ASD_discovery_cases-case03HI2637A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SPATA42,AKNAD1,GPSM2
prasad_12_ASD_discovery_cases-case64379L
Unknown
Unknown
Unknown
VAV3
sajan_13_ACC/CBLH/PMG_discovery_cases-case1300-0
Not tested by qPCR
Unknown
Unknown
Unknown
KIAA1324
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-005
qPCR
Maternal
Unknown
Unknown
ST13P21,FAM102B
sanders_11_ASD_discovery_cases-11001.p1
Both parents
Simplex (trio)
NA
AKNAD1
sanders_11_ASD_discovery_cases-11234.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AKNAD1
sanders_11_ASD_discovery_cases-11376.p1
Maternal
Simplex (quad-proband matched)
Segregated
AKNAD1
sanders_11_ASD_discovery_cases-11378.p1
Unknown
Simplex (quad-proband matched)
Segregated
STXBP3
sanders_11_ASD_discovery_cases-11463.p1
Paternal
Simplex (quad-proband matched)
Not segregated
VAV3
sanders_11_ASD_discovery_cases-11615.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TAF13
sanders_11_ASD_discovery_cases-11710.p1
Unknown
Simplex (trio)
NA
GSTM5,GSTM2,GSTM1
sanders_11_ASD_discovery_cases-11794.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CELSR2
sanders_11_ASD_discovery_cases-11798.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AKNAD1
sanders_11_ASD_discovery_cases-11843.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SPATA42,AKNAD1,GPSM2
sanders_11_ASD_discovery_cases-11920.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AKNAD1
sanders_11_ASD_discovery_cases-11939.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AKNAD1
sanders_11_ASD_discovery_cases-12031.p1
Maternal
Simplex (trio)
NA
AKNAD1
sanders_11_ASD_discovery_cases-12198.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AKNAD1
sanders_11_ASD_discovery_cases-12250.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SPATA42,AKNAD1,GPSM2
sanders_11_ASD_discovery_cases-12316.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12337.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AKNAD1
sanders_11_ASD_discovery_cases-12347.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AKNAD1
sanders_11_ASD_discovery_cases-12383.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AKNAD1
sanders_11_ASD_discovery_cases-12424.p1
Paternal
Simplex (quad-proband matched)
Segregated
GSTM5,GSTM2,GSTM1
sanders_11_ASD_discovery_cases-12579.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SPATA42,AKNAD1,GPSM2
sanders_11_ASD_discovery_cases-12664.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SPATA42,AKNAD1,GPSM2
sanders_11_ASD_discovery_cases-12786.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CELSR2,PSRC1
sanders_11_ASD_discovery_cases-12817.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12957.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SPATA42,AKNAD1,GPSM2
sanders_11_ASD_discovery_cases-12979.p1
Maternal
Simplex (trio)
NA
AKNAD1
sanders_11_ASD_discovery_cases-13152.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
SPATA42,AKNAD1,GPSM2
sanders_11_ASD_discovery_cases-13174.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AKNAD1
sansovic_17_DD/ID/ASD_discovery_cases-case36
Unknown
MIR7852,VAV3-AS1,VAV3,SLC25A24
tropeano_16_ASD/NDD_replication_cases-case68
Unknown
Multi-generational
Unknown
NBPF4,SLC25A24P1,SLC25A24
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
GSTM2,GSTM1
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF19a
De novo
Possibly segregated
RNU6V,MIR197,GPR61,GNAT2,GNAI3
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF20a
De novo
Possibly segregated
RNU6V,MIR197,GPR61,GNAT2,GNAI3
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF23a
De novo
Possibly segregated
RNU6V,MIR197,GPR61,GNAT2,GNAI3
yin_16_ASD_discovery_cases-case28
Unknown
Unknown
Unknown
ST13P21,SLC25A24P1,NBPF6,FAM102B,NBPF5P,SLC25A24P2
yin_16_ASD_discovery_cases-case29
Unknown
Unknown
Unknown
ST13P21,SLC25A24P1,NBPF6,FAM102B,NBPF5P,SLC25A24P2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control20004
Unknown
MIR7852,VAV3-AS1,LINC02785,VAV3,SLC25A24
engchuan_15_ASD_discovery_controls-controlB595540_1007848526
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900033_900033
Unknown
NBPF4,SLC25A24P1,SLC25A24
engchuan_15_ASD_discovery_controls-controlHABC_901215_901215
Unknown
MTATP6P14,MTCO1P14,LINC01661
girirajan_11_ASD_discovery_controls-NIMH_322
Unknown
SLC25A24P1
krumm_15_ASD_discovery_controls-control11665.s1
Illumina 1MDuo
Maternal
AKNAD1
levy_11_ASD_discovery_controls-11897.s1
Paternal
Simplex
NA
GSTM4,GSTM5,GSTM2,GSTM1
poultney_13_ASD_discovery_controls-control04C30844A
qPCR
Unknown
GPSM2
sanders_11_ASD_discovery_controls-11184.s1
Paternal
Simplex (quad)
NA
AKNAD1
sanders_11_ASD_discovery_controls-11234.s1
Paternal
Simplex (quad)
NA
AKNAD1
sanders_11_ASD_discovery_controls-11440.s1
Paternal
Simplex (quad)
NA
AKNAD1
sanders_11_ASD_discovery_controls-11463.s1
Paternal
Simplex (quad)
NA
VAV3
sanders_11_ASD_discovery_controls-11475.s1
Maternal
Simplex (quad)
NA
AKNAD1
sanders_11_ASD_discovery_controls-11615.s1
Paternal
Simplex (quad)
NA
TAF13
sanders_11_ASD_discovery_controls-11835.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11920.s1
Paternal
Simplex (quad)
NA
AKNAD1
sanders_11_ASD_discovery_controls-12032.s1
Unknown
Simplex (quad)
NA
CELSR2
sanders_11_ASD_discovery_controls-12118.s1
Unknown
Simplex (quad)
NA
SPATA42,AKNAD1,GPSM2
sanders_11_ASD_discovery_controls-12153.s1
Unknown
Simplex (quad)
NA
SPATA42,AKNAD1,GPSM2
sanders_11_ASD_discovery_controls-12198.s1
Paternal
Simplex (quad)
NA
AKNAD1
sanders_11_ASD_discovery_controls-12250.s1
Unknown
Simplex (quad)
NA
SPATA42,AKNAD1,GPSM2
sanders_11_ASD_discovery_controls-12351.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12418.s1
Unknown
Simplex (quad)
NA
SPATA42,AKNAD1,GPSM2
sanders_11_ASD_discovery_controls-12420.s1
Maternal
Simplex (quad)
NA
AKNAD1
sanders_11_ASD_discovery_controls-12451.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12579.s1
Paternal
Simplex (quad)
NA
SPATA42,AKNAD1,GPSM2
sanders_11_ASD_discovery_controls-12664.s1
Unknown
Simplex (quad)
NA
SPATA42,AKNAD1,GPSM2
sanders_11_ASD_discovery_controls-12865.s1
Unknown
Simplex (quad)
NA
SPATA42,AKNAD1,GPSM2
sanders_11_ASD_discovery_controls-13174.s1
Maternal
Simplex (quad)
NA
AKNAD1
No Animal Model Data Available