12q24.31CNV Type: Deletion-Duplication
Largest CNV size: 29969 bp
Statistics Box:
Number of Reports: 26
Number of Reports: 26
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally.
Deletion
De novo rates and selection of large copy number variation.
Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Deletion
Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic i...
Deletion
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
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
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
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-Duplication
A genome-wide DNA methylation signature for SETD1B-related syndrome
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
67000
1
0
1
baple_10_ASD/DD/ID_discovery_cases
First and only child of healthy, non-consanguineous parents with unremarkable family history that was initially diagnosed neonatally with Beckwith-Wiedemann Syndrome
1
Case diagnosed with autism spectrum disorder at age of 4 years (diagnostic tools N/A). Case also presented with developmental delay and moderate-to-severe intellectual disability at age of 11 years.
13 yrs.
Female
1580000
1
0
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
2407
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
235
1
2
3
chouery_13_DD/EP_discovery_cases
First child of nonconsanguineous parents with an unremarkable family history, except for father presenting insulin-dependent diabetes at age of 14 years, presenting with a paternally-inherited 12q24.31 deletion
1
Case presented with profound developmental delay, epilepsy (infantile spasms), hypotonia, and autistic behaviors (limited social interaction)
2.3 yrs.
Female
980000
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
491763
1
3
4
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
331000
0
2
2
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
178410
1
0
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)
233661
0
1
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
2083964
3
0
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
8703
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
82514
5
10
15
krzyzewska_19_ASD/ADHD/DD/ID_discovery_cases
Female subject with a de novo 12q24.31 microdeletion affecting the SETD1B and KDM2B genes from an initial cohort of 13 subjects with SETD1B variants.
1
Case presented with autism spectrum disorder, ADHD, developmental delay, and intellectual disability.
12 yrs.
Female
566285
1
0
1
labonne_16_DD/EP_discovery_cases
Patient with overlapping clinical features of 12q24.31 microdeletion syndrome (DGDP343)
1
Case presented with developmental delay, epilepsy, hypotonia, and autistic behaviors (limited social interaction, repetitive behaviors)
3 yrs.
Male
360000
1
0
1
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
140215
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
29818
1
0
1
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
267233
0
3
3
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
73000
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
113509
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
82137
0
1
1
palumbo_15_ID/EP_discovery_cases
Second child of healthy nonconsanguineous parents with uneventful family history initially suspected of having Beckwith-Wiedemann syndrome due to neonatal hypoglycemia and macroglossia
1
Case presented with developmental delay, intellectual disability, epilepsy (tonic-clonic seizures), and behavioral problems (stereotypies and anxiety)
11 yrs. 4 mos.
Female
1660000
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)
430983
0
10
10
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
52213
6
3
9
qiao_12_ASD/ID_discovery_cases
Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
52
ASD and/or ID (intellectual disability)
NA
NA
1566000
1
0
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
29969
8
4
12
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
292458
0
2
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
2407
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
478858
3
7
10
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_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
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
192081
1
8
9
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
140215
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
0
0
0
0
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
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.
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)
137418
0
4
4
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)
52213
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.
23408
8
4
12
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
baple_10_ASD/DD/ID_discovery_cases
European
aCGH
BlueGnome CytoChip v2.01
FISH
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
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
chouery_13_DD/EP_discovery_cases
N/A
Array SNP
Affymetrix 2.7M
Affymetrix ChAS
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
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_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)
krzyzewska_19_ASD/ADHD/DD/ID_discovery_cases
NA
NA
NA
NA
NA
None
labonne_16_DD/EP_discovery_cases
White
aCGH
Agilent 4x180K
qPCR
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
palumbo_15_ID/EP_discovery_cases
Italy
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
Independent array
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
qiao_12_ASD/ID_discovery_cases
Canadian
Array SNP
Affymetrix 2.7M
Affymetrix ChAS v.1.1
QMPSF
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
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
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
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
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
asadollahi_14_NDD_discovery_cases-case63660
N/A
M
NDD
Case with unspecified neurodevelopmental disorder
121318007
121384991
66985
GRCh38
Deletion
Yes
baple_10_ASD/DD/ID_discovery_cases-case1
13 yrs.
F
ASD and DD/ID
Case diagnosed with autism spectrum disorder at age of 4 years. Birth/neonatal history: mother had sudden unexplained weight gain at 36 weeks of pregnancy (no clues of maternal diabetes); emergency C-section performed at term due to macrosomia; birth weight of 4094 g (90th-95th %ile); large tongue that filled mouth but caused no respiratory problems; found to have immediate hypoglycemias caused by hyperinsulinism (management by chlorthiazide, diazoxide and frequent nasogastric tube feedings during infancy to maintain normoglycemia); rapid weight gain in first year of life (weight of 11.8 kg at 1 year of age). Developmental milestones: developmental delay; walking at 18 months, able to sue a few words at 2 years, urinary continence achieved at 11 years. Motor and musculoskeletal evaluation: broad-based gait; unsteady on her feet; large hands and feet, mild tapering of the fingers, short toes, proximally implanted left 4th finger, shortening of the 4th metacarpal bone. Behavioral/psychiatric evaluation: marked anxieties, specifically about plants, small pieces of paper, loud noises and crowds which significantly disturbed daily life. Additional medical history: significant constipation. Dysmorphic features: upslanted palpebral fissures, broad nasal base, full cheeks, high arched palate, overcrowded teeth, full and everted lowe lip, large narrow ears with thick helices, inverted nipples, single small truncal cafe-au-lait spot. Growth parameters: head circumference of 54.8 cm (75th %ile), height of 157.5 cm (98th %ile), and weight of 91.5 kg (98th-99.6th %ile) at age of 11 years. Family history: first and only child of healthy, non-consanguineous parents; unremarkable family history. Note: precise breakpoints for 12q24.31 microdeletion were not provided in this report; minimal size of deletion reported as 1.58 Mb, maximum size as 2.53 Mb; deletion included BACs RP11-18C24, RP11-44F24, and RP11-87C12, but not RP11-144B2 or RP11-32O4; based on minimal gene content, estimated CNV breakpoints of chr12:119,647,954-120,984,333, hg18.
Moderate-to-severe intellectual disability noted upon re-examination at age of 11 years.
N/A
N/A
1580000
NCBI36
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSSC05598
N/A
M
ASD
Case from SSC_phase1 cohort
122377960
122380367
2408
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
123272090
123272219
130
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11461
NA
M
ASD
NA
NA
123272090
123272219
130
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11563
NA
M
ASD
NA
NA
123639113
123639348
236
GRCh38
Duplication
No
chouery_13_DD/EP_discovery_cases-case1
2.3 yrs.
F
Developmental delay, epilepsy, and autistic feature
Birth/neonatal history: uncomplicated pregnancy; born at term by normal vaginal delivery; birth weight of 2900 g (10th %ile), length of 50 cm (median), and head circumference of 32 cm (10th %ile); unremarkable neonatal period. Developmental milestones: profound developmental delay; unable to sit without support and did not crawl, babble, or coo at 18 months of age; capable of transferring objects and walking a few steps with support. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: case displayed poor social interaction skills and rarely smiled in response. Epilepsy/seizures: developed refractory infantile spasms at 4 months (partial response to ACTH therapy). EEG: hypsarrhythmia confirmed at 4 months of age. Brain imaging: mild diffuse atrophy on brain MRI. Additional medical history: significant constipation between 8 and 18 months. Dysmorphic features: flat face, full cheeks, thin upper lip, bulbous nasal tip, high arched palate, retrognathia, narrow ear orifices, four cafe-au-lait spots, microcephaly. Growth parameters: weight of 11.3 kg (50th %ile), height of 86 cm (50th %ile), head circumference of 42.5 cm (<<3rd %ile) at 20 months of age. Family history: first child of nonconsanguineous parents; unremarkable family history, except for father presenting insulin-dependent diabetes at age of 14 years.
Global developmental delay
120711388
121691384
979997
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14357_4710
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
123814207
124305971
491765
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2184_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
123637861
123711309
73449
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4197_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
123390847
123449523
58677
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6375_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
124734575
124789121
54547
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11483.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
124289501
124619501
330001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU1813301
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
124309501
124619501
310001
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case41
3 yrs.
F
Developmental delay
Severe speech delay, microcephaly, facial dysmorphisms, single transverse palmar crease. Karyotype: 9qh-.
Severe cognitive delay
123571514
123749924
178411
GRCh38
Deletion
No
itsara_10_ASD_discovery_cases-HI4412
NA
NA
Autism
NA
NA
121706639
121940300
233662
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002535
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
120504068
122459718
1955651
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005050
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
121471000
122459718
988719
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005152
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
121325874
122505529
1179656
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11241.p1
N/A
M
ASD
ASD proband from SSC quad family 11241. SRS score of 90.
Full-scale IQ (FSIQ) score of 76.
120438126
120446829
8704
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12836.p1
N/A
M
ASD
ASD proband from SSC quad family 12836. SRS score of 65.
Full-scale IQ (FSIQ) score of 127.
120438126
120446829
8704
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11004.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
122132291
122141812
9522
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11216.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
121951454
121959096
7643
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11241.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
120438126
120446829
8704
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11472.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
124398099
124400675
2577
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11964.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
124398099
124400675
2577
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12001.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
120438378
120446829
8452
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12048.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
120438126
120446829
8704
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12118.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
124398099
124400675
2577
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12832.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
123630168
123712682
82515
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12836.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
120446225
120446829
605
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12864.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
120444871
120446561
1691
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14051.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
120440453
120446829
6377
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14161.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
125073875
125142229
68355
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14229.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
121915855
121923990
8136
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14408.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
120438126
120446374
8249
GRCh38
Duplication
Yes
krzyzewska_19_ASD/ADHD/DD/ID_discovery_cases-case9
12 yrs.
F
ASD, ADHD, developmental delay, and intellectual disability
Birth/neonatal history: umbilical hernia noted at birth. Developmental milestones: language delay. Motor and musculoskeletal evaluation: clinodactyly. Behavioral/psychiatric evaluation: autism/autistic behavior, hyperactivity-PDD NOS/ADHD. Additional medical history: obstipation. Dysmorphic features: prominent forehead, telecanthus, epicanthus, preauricular tags, short upturned nose, large nasal bridge, full cheeks, full lower lip, short philtrum, macroglossia, proganthism, irregular teeth, oligodontia. Growth parameters: increased body weight (+2.5 SD).
Intellectual disability
121401014
121967298
566285
GRCh38
Deletion
No
labonne_16_DD/EP_discovery_cases-caseDGDP343
3 yrs.
M
Developmental delay, epilepsy, and autistic feature
Birth/neonatal history: born at 41 weeks 5 days by vaginal delivery after uneventful pregnancy. Developmental milestones: case displayed significant torticollis and developmental delay at approximately 6 months of age; sat at 11.5 months, exhibited command crawling at 15 months; crawling and maintaining a standing position using the wall for support at age of 1 year 10 months. Lanaguage and communication evaluation: severely delayed pre-language skills; developing pragmatic skills at 3-6 month age level and developing interaction-attachment skills at 9-12 months age lecel on Rossetti Infant-Toddler Scale; severely delayed social pragmatic skills; case exhibited less than half of the language comprehension skills at the 12-15 month age level on the Rossetti Infant-Toddler Scale and half of the skills at the 9-12 month age level, as well as severely delayed receptive and expressive language skills, at age of 2 years 3 months. Motor and musculoskeletal evalaution: case diagnosed with mild-moderate hypotonia at age of 2 years 3 months; poor head righting bilaterally, mild-moderate head lag, significant tightness in motion, early stages of four-point crawling observed; evaluation of gross motor skills at age of 2 years 3 months placed gross motor skills at approximately a 7-month-old level; delayed fine motor skills noted at age of 2 years 3 months; mild tapering fingers. Behavioral/psychiatric evaluation: high pain tolerance noted at age of 2 years 3 months; enjoyment of exaggerated sensations (such as loud music), lack of engagement in creative or pretend play, very limited social interaction, some unusual finger movements, and repetitive arm scratching noted at age of 2 years 11 months (behaviors compatible with ASD diagnosis). Epilepsy/seizures: myoclonic seizures began at age of 1 year 6 months, followed by screaming seizures; epilepsy categorized as E3 generalized, E3 multifocal, D1 generalized indicating a change in epilepsy time over time at age of 2 years 6 months; myoclonic seizures replaced by tonic seizures at age of 2 years 9 months. EEG: generalized epileptiform activity classified as E1, generalized at age of 1 year 7 months; very active epileptifrom disturbance classifying epilepsy as E3, generalized at age of 2 years. Dysmorphic features: narrow face, prominent forehead, hypertelorism, mild plagiocephaly. Growth parameters: head circumference 4th %ile at age of 4 years 2 months.
Developmental delay
121471102
121831531
360430
GRCh38
Deletion
Yes
larson_17_ASD_discovery_cases-case17
N/A
M
ASD and psychosis
Male, learning disabilities, psychosis onset in mid 20s, diagnosis of affective psychosis NOS, no family history. CNV not reported in DGV.
Learning disabilities
123458024
123598239
140216
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11004.p1
NA
M
ASD
NA
NA
122132283
122162100
29818
GRCh38
Deletion
Yes
lintas_17_ASD_discovery_cases-case19.2
10 yrs.
M
Autism
ASD, intense motor stereotypies and sensory self-stimulation
123397441
123496434
98994
GRCh38
Duplication
Yes
lintas_17_ASD_discovery_cases-case5.1
N/A
M
Autism
No additional clinical information available
120568265
120835498
267234
GRCh38
Duplication
Yes
lintas_17_ASD_discovery_cases-case5.2
N/A
M
Asperger syndrome
No additional clinical information available
120568265
120835498
267234
GRCh38
Duplication
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown21
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
123645500
123708500
63001
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256998
N/A
F
Developmental delay/intellectual disability and epilepsy
Database: DECIPHER. Indication for study: intellectual disability/developmental delay, neuroradiology, tonic/clonic (grand-mal)
Developmental delay/intellectual disability
121753414
121866923
113510
GRCh38
Duplication
N/A
nord_11_ASD_discovery_cases-258-1
ASD
122679301
122761437
82137
Unknown
Duplication
No
palumbo_15_ID/EP_discovery_cases-case1
11 yrs. 4 mos.
F
Intellectual disability and epilepsy
Birth/neonatal history: born at 40 weeks of gestation; small for gestational age at birth (2650 g, 5th-10th %ile); presented with moderate macroglossia and full cheeks; breathing difficulties, mild hyperglycemia and mild hypocalcemia a few hours after birth; jaundice at 3 days of age. Developmental milestones: delayed neurological milestones; global developmental delay; started walking at 2.5 years, started speaking at 4 years. Motor and musculoskeletal evaluation: presented with spastic quadriplegia since first months of life; mild tapering of the fingers, hypoplastic nails, proximal implanation of the 4th metacarpal bone. Behavioral/psychiatric evaluation: anxiety (especially about loud noises and crowds), stereotypies. Epilepsy/seizures: tonic-clonic seizures around 12 years of age. EEG: two epileptogenic focuses following seizure onset. Brain imaging: ectasia of the ventricles and thin Sylvius adueduct on brain MRI. Cardiovascular evaluation: persistent open foramen ovale noted at birth; heart surgery for inter-atrial defect at 18 months of age; mild mitral regurgiation around 12 years of age. Dysmorphic features: long oval face, downslanting palpebral fissures, broad nasal base, high nasal root, high palate, overcrowded teeth, full and everted lower lip vermillion, large narrow ears with thick helices. Growth parameters: height 10th-25th %ile, weight 10th-25th %ile, and head circumference 10th-25th %ile at age of 11.4 years. Family history: second child of healthy nonconsanguineous parents with uneventful family history.
Moderate-to-severe intellectual disability
121449355
123067666
1618312
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case98HI0220A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU015204; NDAR ID NDAR_INVUV788KP0)
123630167
123707715
77549
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0694B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
121743627
122127968
384342
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0694B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
125091424
125142231
50808
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0841A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU058504; NDAR ID NDAR_INVNN525TBD)
122263570
122273102
9533
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
123202622
123302902
100281
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
123320430
123350443
30014
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
121957072
121999946
42875
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
122232244
122279147
46904
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
120510015
120571293
61279
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
123671505
123752404
80900
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case134413
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
124209593
124220857
11265
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case137484
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
119355152
119372694
17543
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case146441L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
120597120
120607096
9977
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case155571L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
119355152
119372694
17543
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case45551
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
120795257
120828660
33404
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60811
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
119355152
119372694
17543
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case83553L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
120310439
120318813
8375
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case86605L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
123160441
123212653
52213
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case99006
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
124097018
124107701
10684
Unknown
Deletion
No
qiao_12_ASD_discovery_cases-case09-99A
8 yrs. 4 mos.
F
ASD
Mild dysmorphic features with upslanting palpebral fissures, synophrys, small, low-set and posteriorly rotated ears, high nasal root with thick alae nasi and a square tip, prominent front incisors and a narrow palate, very tapered fingers with prominent fingertip pads, bilateral hypoplastic nails on both halluces, patchy eczema and thick ichthyotic skin, diagnosed with a T-cell skin lymphoma (a hyperpigmented patch on her lower back), symmetric large stature (height, weight and OFC each at 98th centile). Normal cranial MRI, EEG, opthalmology and audiology assessments.
Global developmental delay. Moderate intellectual disability
120742688
122308925
1566000
Unknown
Deletion
Yes
sanders_11_ASD_discovery_cases-11004.p1
15.8
M
ASD
NA
Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
122132219
122162188
29970
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11055.p1
12.2
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 19
122804848
122819398
14551
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
122806959
122829096
22138
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
122804848
122819398
14551
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11909.p1
5.7
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
122498913
122505087
6175
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11918.p1
9.8
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
122804848
122819398
14551
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12041.p1
6.7
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
122806959
122819398
12440
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12048.p1
7.2
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 87; verbal IQ, 40
120435923
120450816
14894
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12117.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
121102543
121104325
1783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
122804848
122819398
14551
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12836.p1
6.8
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 121; verbal IQ, 129
120435923
120450816
14894
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12864.p1
5.8
F
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 65; verbal IQ, 81
120430677
120450816
20140
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family4_Twin_1
N/A
N/A
NDD
Case is from a monozygotic twin pair from the Concordant NDD diagnostic group
124484590
124777047
292458
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family4_Twin_2
N/A
N/A
NDD
Case is from a monozygotic twin pair from the Concordant NDD diagnostic group
124484590
124777047
292458
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-controlSSC05618
N/A
F
Control
Control from SSC_phase1 cohort
122377960
122380367
2408
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlB201628_1007841172
N/A
N/A
Control
No previous psychiatric history
122898792
122959875
61084
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB275079_1007852942
N/A
N/A
Control
No previous psychiatric history
120955540
120993422
37883
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB275079_1007852942
N/A
N/A
Control
No previous psychiatric history
122216656
122695514
478859
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB761923_1007874868
N/A
N/A
Control
No previous psychiatric history
123632542
123711309
78768
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB769378_0067942579
N/A
N/A
Control
No previous psychiatric history
121672892
121712477
39586
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900626_900626
N/A
N/A
Control
No previous psychiatric history
121729787
121766009
36223
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901248_901248
N/A
N/A
Control
No previous psychiatric history
123626387
123673908
47522
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902682_902682
N/A
N/A
Control
No previous psychiatric history
124685565
124725438
39874
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902682_902682
N/A
N/A
Control
No previous psychiatric history
124561490
124652463
90974
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902765_902765
N/A
N/A
Control
No previous psychiatric history
123153290
123203227
49938
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11216.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
121951479
121959094
7616
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11472.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
124398099
124400675
2577
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11597.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
121843709
121858826
15118
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12014.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
120440453
120446829
6377
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12864.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
120438126
120446561
8436
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13892.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
124950148
125142229
192082
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13962.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
122498826
122505706
6881
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14051.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
120440453
120446561
6109
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14112.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
120438126
120446831
8706
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C27734A
N/A
F
Control
NIMH Control (NIMH ID 28812)
122263570
122273102
9533
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C43420
N/A
F
Control
NIMH Control (NIMH ID 79223)
120438377
120446831
8455
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
124965666
125103083
137418
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
120496420
120565191
68772
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11055.s1
11.3
F
Control (matched sibling)
NA
NA
122804848
122819398
14551
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11071.s1
20
F
Control (matched sibling)
NA
NA
123427242
123429150
1909
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11245.s1
14.1
M
Control (matched sibling)
NA
NA
122625818
122632131
6314
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11597.s1
9
M
Control (matched sibling)
NA
NA
121839985
121863393
23409
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11714.s1
4.3
M
Control (matched sibling)
NA
NA
123620004
123626387
6384
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11909.s1
5.7
M
Control (matched sibling)
NA
NA
122498913
122505087
6175
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11918.s1
12.3
M
Control (matched sibling)
NA
NA
122804848
122819398
14551
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
121102543
121104325
1783
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12572.s1
6.6
F
Control (matched sibling)
NA
NA
121676687
121685883
9197
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12864.s1
12.9
F
Control (matched sibling)
NA
NA
120435923
120450816
14894
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12964.s1
8.5
M
Control (matched sibling)
NA
NA
122803892
122819398
15507
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13036.s1
10.2
F
Control (matched sibling)
NA
NA
121162377
121164435
2059
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case63660
MLPA
Maternal
Unknown
Unknown
ANAPC5
baple_10_ASD/DD/ID_discovery_cases-case1
FISH
De novo
Simplex
Likely segregated
Minimum CNV gene content: ACADS,SPPL3,HNF1A,C12orf43,OASL,P2RX7,P2RX4,CAMKK2,ANAPC5,RNF34,FBXL10,ORAI1,MORN3,TMEM120B,RHOF,HPD,PSMD9,WDR66,BCL7A
brandler_18_ASD_discovery_cases-caseSSC05598
PCR or SNP data validation
Paternal
CLIP1
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
CDK2AP1
celestino-soper_11_ASD_discovery_cases-11461
Unknown
Simplex
NA
CDK2AP1
celestino-soper_11_ASD_discovery_cases-11563
Unknown
Simplex
NA
GTF2H3
chouery_13_DD/EP_discovery_cases-case1
qPCR
Paternal
Simplex
Unknown
MIR4700,ARF1P2,CLIC1P1,RPL12P33,OASL2P,MIR7107,RNU6-1004P,ACADS,C12orf43,OASL,P2RX7,P2RX4,RNF34,MORN3,UNC119B,SPPL3,HNF1A-AS1,HNF1A,CAMKK2,ANAPC5,KDM2B,ORAI1
engchuan_15_ASD_discovery_cases-case14357_4710
Unknown
CCDC92,DNAH10OS,DNAH10,ZNF664,RFLNA
engchuan_15_ASD_discovery_cases-case2184_1
Unknown
GTF2H3,TCTN2
engchuan_15_ASD_discovery_cases-case4197_1
Unknown
KMT5A,RILPL2
engchuan_15_ASD_discovery_cases-case6375_6
Unknown
SCARB1
girirajan_13a_ASD_discovery_cases-11483.p1
Unknown
Simplex
Unknown
MIR6880,RFLNA,NCOR2
girirajan_13a_ASD_discovery_cases-AU1813301
Unknown
Multiplex
Unknown
MIR6880,RFLNA,NCOR2
iourov_12_ASD/ID/EP_discovery_cases-case41
Unknown
Unknown
Unknown
TMED2,SNORA9B,RPL27P12,DDX55,EIF2B1,GTF2H3,TCTN2,ATP6V0A2
itsara_10_ASD_discovery_cases-HI4412
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
RNU7-170P,RHOF,LINC01089,SETD1B,HPD,WDR66,TMEM120B,PSMD9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002535
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RPL29P24,POP5,RPL11P5,MIR4700,ARF1P2,CLIC1P1,RPL12P33,OASL2P,MIR7107,RNU6-1004P,RNU7-170P,IL31,RPL21P1,CLIP1-AS1,COQ5,RNF10,CABP1,MLEC,ACADS,C12orf43,OASL,P2RX7,P2RX4,RNF34,MORN3,RHOF,LINC01089,SETD1B,HPD,WDR66,MLXIP,LRRC43,B3GNT4,DIABLO,VPS33A,UNC119B,SPPL3,HNF1A-AS1,HNF1A,CAMKK2,ANAPC5,KDM2B,TMEM120B,PSMD9,BCL7A,CLIP1,ORAI1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005050
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1004P,RNU7-170P,IL31,RPL21P1,CLIP1-AS1,MORN3,RHOF,LINC01089,SETD1B,HPD,WDR66,MLXIP,LRRC43,B3GNT4,DIABLO,VPS33A,KDM2B,TMEM120B,PSMD9,BCL7A,CLIP1,ORAI1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005152
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR7107,RNU6-1004P,RNU7-170P,IL31,RPL21P1,CLIP1-AS1,RNF34,MORN3,RHOF,LINC01089,SETD1B,HPD,WDR66,MLXIP,LRRC43,B3GNT4,DIABLO,VPS33A,ZCCHC8,RSRC2,ANAPC5,KDM2B,TMEM120B,PSMD9,BCL7A,CLIP1,ORAI1
krumm_13_ASD_discovery_cases-case11241.p1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Segregated
TRIAP1,COX6A1,GATC
krumm_13_ASD_discovery_cases-case12836.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
Segregated
TRIAP1,COX6A1,GATC
krumm_15_ASD_discovery_cases-case11004.p1
Illumina 1M
De novo
Simplex
Segregated
MLXIP
krumm_15_ASD_discovery_cases-case11216.p1
Illumina 1M
De novo
Simplex
Not segregated (CNV in unaffected sibling)
WDR66
krumm_15_ASD_discovery_cases-case11241.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
TRIAP1,COX6A1,GATC
krumm_15_ASD_discovery_cases-case11472.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
NCOR2
krumm_15_ASD_discovery_cases-case11964.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
NCOR2
krumm_15_ASD_discovery_cases-case12001.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
TRIAP1,COX6A1,GATC
krumm_15_ASD_discovery_cases-case12048.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
TRIAP1,COX6A1,GATC
krumm_15_ASD_discovery_cases-case12118.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
NCOR2
krumm_15_ASD_discovery_cases-case12832.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
EIF2B1,GTF2H3,TCTN2,ATP6V0A2
krumm_15_ASD_discovery_cases-case12836.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
TRIAP1,GATC
krumm_15_ASD_discovery_cases-case12864.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
TRIAP1,GATC
krumm_15_ASD_discovery_cases-case14051.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
TRIAP1,COX6A1,GATC
krumm_15_ASD_discovery_cases-case14161.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
AACS
krumm_15_ASD_discovery_cases-case14229.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
WDR66,PSMD9
krumm_15_ASD_discovery_cases-case14408.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
TRIAP1,COX6A1
krzyzewska_19_ASD/ADHD/DD/ID_discovery_cases-case9
De novo
RHOF,RNF34,KDM2B,ORAI1,CFAP251,TMEM120B,HPD,MORN3,LINC01089,PSMD9,KDM2B-DT,MIR7107,RNU6-1004P,RNU7-170P,SETD1B
labonne_16_DD/EP_discovery_cases-caseDGDP343
qPCR
De novo
Simplex
Likely segregated
RNU6-1004P,MORN3,RHOF,LINC01089,SETD1B,KDM2B,TMEM120B,ORAI1
Reduced transcript levels of KDM2B, ORAI1, MORN3, TMEM120B, RHOF, and SETD1B in patient LCLs
larson_17_ASD_discovery_cases-case17
Unknown
Simplex
Unknown
MIR3908,TMED2,RILPL1,SNRNP35
levy_11_ASD_discovery_cases-11004.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
MLXIP
lintas_17_ASD_discovery_cases-case19.2
Validation by visual inspection, RT-PCR, or PCR
Paternal
Multiplex
Not segregated (CNV only observed in 1/3 affected siblings)
KMT5A,RILPL2,RILPL1,SNRNP35
lintas_17_ASD_discovery_cases-case5.1
Validation by visual inspection, RT-PCR, or PCR
Paternal
Multiplex
Segregated (CNV observed in all both affected siblings)
POP5,RPL11P5,MIR4700,RNF10,CABP1,MLEC,ACADS,UNC119B,SPPL3
lintas_17_ASD_discovery_cases-case5.2
Validation by visual inspection, RT-PCR, or PCR
Paternal
Multiplex
Segregated (CNV observed in all both affected siblings)
POP5,RPL11P5,MIR4700,RNF10,CABP1,MLEC,ACADS,UNC119B,SPPL3
maini_18_ASD/DD/ID_discovery_cases-case_unknown21
Maternal
Unknown
Unknown
GTF2H3,TCTN2
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256998
Unknown
Unknown
Unknown
RHOF,LINC01089,SETD1B,HPD,TMEM120B
nord_11_ASD_discovery_cases-258-1
Maternal
GTF2H3,TCTN2,EIF2B1
palumbo_15_ID/EP_discovery_cases-case1
Independent array
De novo
Simplex
Likely segregated
RNU6-1004P,RNU7-170P,IL31,RPL21P1,CLIP1-AS1,HCAR2,HCAR1,ARL6IP4,MIR4304,MORN3,RHOF,LINC01089,SETD1B,HPD,WDR66,MLXIP,LRRC43,B3GNT4,DIABLO,VPS33A,ZCCHC8,RSRC2,HCAR3,DENR,HIP1R,VPS37B,OGFOD2,KDM2B,TMEM120B,PSMD9,BCL7A,CLIP1,KNTC1,CCDC62,ABCB9,PITPNM2,ORAI1
poultney_13_ASD_discovery_cases-case98HI0220A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
EIF2B1,GTF2H3,TCTN2
poultney_13_ASD_discovery_cases-case99HI0694B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU7-170P,RHOF,LINC01089,SETD1B,HPD,WDR66,MLXIP,TMEM120B,PSMD9,BCL7A
poultney_13_ASD_discovery_cases-case99HI0694B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
AACS
poultney_13_ASD_discovery_cases-case99HI0841A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
VPS33A,CLIP1
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CDK2AP1,RNA5SP375,C12orf65,MPHOSPH9,SBNO1
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SBNO1
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
WDR66
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
VPS33A,CLIP1
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RPL29P24,COQ5,RNF10
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RPL27P12,TCTN2,ATP6V0A2
prasad_12_ASD_discovery_cases-case134413
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case137484
Unknown
Unknown
Unknown
GATC,COX6A1,TRIAP1
prasad_12_ASD_discovery_cases-case146441L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case155571L
Unknown
Unknown
Unknown
GATC,COX6A1,TRIAP1
prasad_12_ASD_discovery_cases-case45551
Unknown
Unknown
Unknown
PSMD9,HPD
prasad_12_ASD_discovery_cases-case60811
Unknown
Unknown
Unknown
GATC,COX6A1,TRIAP1
prasad_12_ASD_discovery_cases-case83553L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case86605L
Unknown
Unknown
Unknown
ZNF664-FAM101A
prasad_12_ASD_discovery_cases-case99006
Unknown
Unknown
Unknown
0 genes
qiao_12_ASD_discovery_cases-case09-99A
QMPSF
De novo
Simplex
Likely segregated
SETD1B,HPD,PSMD9,WDR66,BCL7A,MLXIP,LRRC43,IL31,B3GNT4,DIABLO,VPS33A,CLIP1,ZCCHC8,RSRC2,KNTC1,HCAR2,HCAR3,HCAR1,DENR,CCDC62,HIP1R,VPS37B,ABCB9,OGFOD2,ARL6IP4,PITPNM2,MPHOSPH9,C12orf65
sanders_11_ASD_discovery_cases-11004.p1
Unknown
Simplex (quad-proband matched)
Segregated
MLXIP
sanders_11_ASD_discovery_cases-11055.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CCDC62
sanders_11_ASD_discovery_cases-11158.p1
Maternal
Simplex (quad-proband matched)
Segregated
CCDC62
sanders_11_ASD_discovery_cases-11710.p1
Both parents
Simplex (trio)
NA
CCDC62
sanders_11_ASD_discovery_cases-11909.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZCCHC8,RSRC2
sanders_11_ASD_discovery_cases-11918.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CCDC62
sanders_11_ASD_discovery_cases-12041.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CCDC62
sanders_11_ASD_discovery_cases-12048.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TRIAP1,RPL31P52,COX6A1,GATC
sanders_11_ASD_discovery_cases-12117.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12184.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CCDC62
sanders_11_ASD_discovery_cases-12836.p1
Unknown
Simplex (quad-proband matched)
Segregated
TRIAP1,RPL31P52,COX6A1,GATC
sanders_11_ASD_discovery_cases-12864.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TRIAP1,RPL31P52,COX6A1,GATC
stamouli_18_ASD/NDD_discovery_cases-family4_Twin_1
Unknown
Multiplex
Segregated (CNV present in both affected twins)
NCOR2,SCARB1
stamouli_18_ASD/NDD_discovery_cases-family4_Twin_2
Unknown
Multiplex
Segregated (CNV present in both affected twins)
NCOR2,SCARB1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC05618
PCR or SNP data validation
Paternal
CLIP1
engchuan_15_ASD_discovery_controls-controlB201628_1007841172
Unknown
ABCB9
engchuan_15_ASD_discovery_controls-controlB275079_1007852942
Unknown
HNF1A-AS1,HNF1A
engchuan_15_ASD_discovery_controls-controlB275079_1007852942
Unknown
RPL21P1,CLIP1-AS1,DIABLO,VPS33A,ZCCHC8,RSRC2,CLIP1,KNTC1
engchuan_15_ASD_discovery_controls-controlB761923_1007874868
Unknown
EIF2B1,GTF2H3,TCTN2
engchuan_15_ASD_discovery_controls-controlB769378_0067942579
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900626_900626
Unknown
TMEM120B
engchuan_15_ASD_discovery_controls-controlHABC_901248_901248
Unknown
EIF2B1,GTF2H3,TCTN2
engchuan_15_ASD_discovery_controls-controlHABC_902682_902682
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902682_902682
Unknown
NCOR2
engchuan_15_ASD_discovery_controls-controlHABC_902765_902765
Unknown
MPHOSPH9
krumm_15_ASD_discovery_controls-control11216.s1
Illumina 1M
Maternal
WDR66
krumm_15_ASD_discovery_controls-control11472.s1
Illumina 1MDuo
Maternal
NCOR2
krumm_15_ASD_discovery_controls-control11597.s1
Illumina 1M
Maternal
HPD
krumm_15_ASD_discovery_controls-control12014.s1
Illumina 1MDuo
Maternal
TRIAP1,COX6A1,GATC
krumm_15_ASD_discovery_controls-control12864.s1
Illumina 1MDuo
Maternal
TRIAP1,COX6A1,GATC
krumm_15_ASD_discovery_controls-control13892.s1
Omni2.5-4v1
Maternal
DHX37,BRI3BP,THRIL,AACS
krumm_15_ASD_discovery_controls-control13962.s1
Omni2.5-4v1
Maternal
ZCCHC8,RSRC2
krumm_15_ASD_discovery_controls-control14051.s1
Omni2.5-4v1
Maternal
TRIAP1,COX6A1,GATC
krumm_15_ASD_discovery_controls-control14112.s1
Omni2.5-4v1
De novo
TRIAP1,COX6A1,GATC
poultney_13_ASD_discovery_controls-control04C27734A
Unknown
VPS33A,CLIP1
poultney_13_ASD_discovery_controls-control05C43420
Unknown
TRIAP1,COX6A1,GATC
poultney_13_ASD_discovery_controls-control05C44621
Unknown
DHX37,BRI3BP,THRIL,AACS
poultney_13_ASD_discovery_controls-control05C44621
Unknown
RPL29P24,DYNLL1,COQ5,RNF10
sanders_11_ASD_discovery_controls-11055.s1
Unknown
Simplex (quad)
NA
CCDC62
sanders_11_ASD_discovery_controls-11071.s1
Paternal
Simplex (quad)
NA
RILPL2
sanders_11_ASD_discovery_controls-11245.s1
Maternal
Simplex (quad)
NA
KNTC1
sanders_11_ASD_discovery_controls-11597.s1
Maternal
Simplex (quad)
NA
HPD
sanders_11_ASD_discovery_controls-11714.s1
Maternal
Simplex (quad)
NA
DDX55,EIF2B1
sanders_11_ASD_discovery_controls-11909.s1
Paternal
Simplex (quad)
NA
ZCCHC8,RSRC2
sanders_11_ASD_discovery_controls-11918.s1
Paternal
Simplex (quad)
NA
CCDC62
sanders_11_ASD_discovery_controls-12184.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12572.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12864.s1
Maternal
Simplex (quad)
NA
TRIAP1,RPL31P52,COX6A1,GATC
sanders_11_ASD_discovery_controls-12964.s1
Maternal
Simplex (quad)
NA
CCDC62
sanders_11_ASD_discovery_controls-13036.s1
Paternal
Simplex (quad)
NA
P2RX7
No Animal Model Data Available