13q34CNV Type: Deletion-Duplication
Largest CNV size: 392072 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
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-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
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
A case with a ring chromosome 13 in a cohort of 203 children with non-syndromic autism and review of the cytogenetic literature.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
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
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
amenta_23_DD_discovery_cases
Individual with a de novo 13q34 deletion that included the CHAMP1 gene from an initial cohort of three individuals with CHAMP1-related disorder.
1
Case presented with slightly delayed speech development and a history of learning difficulties.
26 yrs.
Male
194508
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
99
1
0
1
charalsawadi_14_ASD/ID_discovery_cases
A cross-sectional, prospective cohort study of Thai ASD cases from January 2006 to December 2009
203
Cases met DSM-IV criteria for autistic disorder (n=161) or PDD-NOS (n=42); cases with dysmorphic features compatible with known genetic syndromes, a history of perinatal complications, low birth weight, or prematurity were excluded.
N/A
N/A
2110000
1
0
1
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
855280
1
0
1
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
959833
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
392071
1
9
10
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
1087534
1
0
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
109358
2
0
2
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
557543
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
349000
0
2
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
3221006
2
6
8
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
89483
0
3
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
342999
0
10
10
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
591295
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
367137
0
1
1
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
1200000
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
284289
0
1
1
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
1143077
1
0
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
4213684
13
20
33
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
392072
0
3
3
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
187523
0
1
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)
22941
0
4
4
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
118303
2
3
5
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
135947
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
364811
9
11
20
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
120940
2
1
3
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
279117
0
1
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
75033
0
9
9
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
557543
NA
NA
NA
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
143809
0
4
4
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
165170
0
10
10
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% 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
166336
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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
1
5
6
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.
40904
2
1
3
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)
22941
0
3
3
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)
118303
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.
161917
11
4
15
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
120940
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
amenta_23_DD_discovery_cases
Italy
aCGH
Agilent 8x60K
ADM-2
Agilent CytoGenomics
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
charalsawadi_14_ASD/ID_discovery_cases
Thai
G-banded karyotyping
FISH, solid phase hybridization (Illumina HumanCytoSNP-12 v2.1)
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
FISH
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
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_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
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
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
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
amenta_23_DD_discovery_cases-case3
26 yrs.
M
Developmental delay
Birth/neonatal history: pregnancy, delivery, and early infancy were uneventful. Developmental milestones: normal milestones with walking unsupported at 12 months; slightly delayed speech development (first words at 18 months). Language and communication evaluation: stuttering. Additional medical history: azoospermia, gynecomastia, mild and not clinically relevant varicocele. Dysmorphic features: simplified auricles, apparent hypertelorism, malar hypoplasia. Growth parameters: weight 66 kg (50th-75th %ile), height 179 cm (50th %ile), and OFC 52.8 cm (10th %ile) at 19 years. Family history: only child of healthy and non-consanguineous Italian parents.
Learning difficulties as a child
114136484
114330991
194508
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
111115523
111115622
100
GRCh38
Deletion
No
charalsawadi_14_ASD/ID_discovery_cases-case1
41 mos.
M
ASD and ID
Initial diagnosis of PDD-NOS based on DSM-IV criteria; diagnosis of ASD confirmed using Thai version of ADOS. Birth/neonatal history: born full-term by C-section due to cephalopelvic disproportion after uneventful pregnancy; birth weight of 2600 g(10th-25th %ile), relative to Thai population; no immediate complications after birth. Developmental milestones: delayed speech; assessments of gross and fine motor developmental milestones were unremarkable. Behavioral/psychiatric evaluation: hyperactivity. Dysmorphic features: none. Growth parameters: weight of 14.5 kg (50th-75th %ile), height of 97 cm (50th-75th %ile), head circumference of 48 cm (10th-25th %ile). Additional genetic information: case with ring chromosome 13 (detected by G-banded karyotyping; observed in all 50 analyzed metaphase lymphocytes). Karyotype: 46,XY,r(13)(p11.2q34).ish del(13)(q34)(RP11-139P6-).arr[hg19] 13q34(112,996,118-115,106,996)x1 dn.
Mild mental impairment in areas of quantitative reasoning and visual-spatial processing; IQ of 60 using a non-verbal form of Stanford-Binet Intelligence Scale, 5th edition; mildly impaired adaptive behavior on Vineland Adaptive Behavior Scales.
112505944
114341521
1835578
GRCh38
Deletion
Yes
chaves_19_ASD/DD/ID_discovery_cases-case61
N/A
M
Hyperactivity
DIL, hyperactivity. Family history: four affected siblings.
113486979
114342258
855280
GRCh38
Deletion
No
chaves_24_ASD/DD/ID_discovery_cases-case646
F
Intellectual disability
Leopard syndrome-like freckles, alopecia, tremor
Mild intellectual disability
113382426
114342258
959833
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14344_4580
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
111028033
111107171
79139
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14378_4910
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
111016325
111098935
82611
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21035_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
110072363
110109174
36812
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2289_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
111028033
111098935
70903
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3159_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
110895914
111125666
229753
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4463_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
111029653
111098935
69283
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4508_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33824
123748
89925
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5013_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
111025082
111098935
73854
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5135_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
113366240
113758311
392071
NCBI36
Duplication
No
engchuan_15_ASD_discovery_cases-case5145_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
113809317
113841915
32599
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0033400
N/A
F
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
113350849
114327222
976374
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1327304
Autism
113133805
113243162
109358
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1327305
Autism
113132512
113237619
105108
Unknown
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case38025
2 mos.
F
MCA
Deceased. Dysmorphic features: low-set ears with folded helices. Congenital anomalies: severe congenital heart defects (tetralogy of Fallot, absent pulmonary valve, ventricular septal defect), butterfly vertebrae, 13 rib pairs, supernumerary nipple. Family history: non-contributory.
NA
113384155
113671678
287524
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-12434.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
114051114
114336423
285310
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13987.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
110299652
110589652
290001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000780
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
114192458
114293545
101088
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001715
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
113474906
114126525
651619
NCBI36
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001770
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
113328389
113671476
343088
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002252
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
112292922
113636272
1343351
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004064
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
113448327
114327314
878988
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004734
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
113084152
114327173
1243022
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004843
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
111541166
113671678
2130513
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005735
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
111439396
114327173
2887778
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11196.p1
N/A
M
ASD
ASD proband from SSC quad family 11196. SRS score of 80.
Full-scale IQ (FSIQ) score of 112.
114236798
114326281
89484
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case11808.p1
N/A
F
ASD
ASD proband from SSC quad family 11808. SRS score of 71.
Full-scale IQ (FSIQ) score of 84.
113325660
113326091
432
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13063.p1
N/A
M
ASD
ASD proband from SSC quad family 13063. SRS score of 74.
Full-scale IQ (FSIQ) score of 49.
113811735
113832488
20754
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11196.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
114236644
114326281
89638
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11257.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
114242120
114281846
39727
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11834.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
113811735
113834672
22938
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12220.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
113811735
113832488
20754
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12434.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
114051114
114326281
275168
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13063.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
113811735
113832488
20754
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13106.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
113811735
113834672
22938
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13294.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
113811735
113834672
22938
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13796.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
114242120
114272443
30324
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13987.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
110357471
110627547
270077
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD1548
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
113753109
114344403
591295
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-12434.p1
NA
M
ASD
NA
NA
114051114
114342045
290932
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case152
17 yrs.
M
Language delay and language disorder
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: language disorder. Musculoskeletal evaluation: pes planus. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: N/A. Additional medical history: ematologic anomalies. Dysmorphic features: ears with attached earlobes. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history negative for NDDs.
Normal (no intellectual disability or learning disorder)
112270066
113492389
1222324
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-MM0295-003
NA
M
ASD
NA
NA
113764970
113936974
172005
GRCh38
Duplication
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530549
F
Intellectual disability
Intellectual disability (HP:0001249).
113221252
114364328
1143077
GRCh38
Deletion
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-248205
N/A
M
Developmental delay/intellectual disability and epilepsy
Database: DECIPHER. Indication for study: intellectual disability/developmental delay, seizures, speech delay, tall stature, proportionate
Developmental delay/intellectual disability
112505944
114319666
1813723
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-248940
N/A
M
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: intellectual disability/developmental delay.
Developmental delay/intellectual disability
110330081
114293545
3963465
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-250433
N/A
M
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Broad base to nose, constipation, flat arches of feet, headache/migraine/body pain, hypertelorism, intellectual disability/developmental delay, palpebral fissures slant up, philtrum, skin pigment, speech delay, thick lower and upper lip, thick stiff skin, slender build, umbilical hernia
Developmental delay/intellectual disability
112802888
114344403
1541516
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-260546
N/A
F
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
111576269
114293486
2717218
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC16621
N/A
M
Intellectual disability
Database: Signature. Indication for study: intellectual disability, Multiple Congenital Anomalies, karyotype: der(13)t(13;20) w/~12 Mb 20p dup
Intellectual disability
112673540
114344403
1670864
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC24735
N/A
M
Developmental delay
Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features, karyotype: der(13)t(13;17) w/~4Mb 17q dup
Developmental delay
110303847
114344403
4040557
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC28402
N/A
F
MCA
Database: Signature. Indication for study: Multiple Anomalies
110571106
114319666
3748561
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36677
N/A
F
DD/ID/MCA
Database: Signature. Indication for study: Trisomy 13
113050066
114312466
1262401
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC37523
N/A
F
Intellectual disability
Database: Signature. Indication for study: Dysmorphic Features, intellectual disability, karyotype: der(13)t(13;16) w/~3Mb 6q gain
Intellectual disability
113853734
114344403
490670
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC38199
N/A
F
Dysmorphic features
Database: Signature. Indication for study: Dysmorphic Features, 46,XX,add(13)(q34), karyotype: der(13)t(X;13) w/~30 Mb Xp gain
114227954
114312466
84513
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC44799
N/A
M
DD/ID/MCA
Database: Signature. Indication for study: Family history of Congenital Neuropathy, R/O Digeorge, karyotype: der(13)t(7;13) w/~3Mb 7p dup
112505944
114326261
1820318
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC51160
N/A
F
MCA
Database: Signature. Indication for study: Multiple Congenital Anomalies, karyotype: der(13)t(13;20) w/~14 Mb 20q del
111166466
114326261
3159796
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC64285
N/A
M
Developmental delay
Database: Signature. Indication for study: Developmental Delay, karyotype: der(13)t(4;13) w/~14Mb 4p dup
Developmental delay
113237590
114326261
1088672
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient159
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient160
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient161
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient162
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient163
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient164
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient165
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient166
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient167
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient168
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient169
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient170
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient171
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient172
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient173
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient174
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient175
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient176
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient177
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient178
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
pinto_10_ASD_discovery_cases-case5013_3
NA
M
ASD
NA
NA
111025082
111098935
73854
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5135_3
NA
M
ASD
NA
NA
113366240
113758311
392072
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case5145_4
NA
F
ASD
NA
NA
113809317
113841915
32599
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case9879_202
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
113391958
113579480
187523
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case00HI1548A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU076705; NDAR ID NDAR_INVLM604GMM)
113811734
113834674
22941
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case03HI2537A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0934302; NDAR ID NDAR_INVMY062BPQ)
113811734
113832754
21021
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI4355A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1525302; NDAR ID NDAR_INVCB608CF5)
113811734
113832754
21021
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0631B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU011105; NDAR ID NDAR_INVZH522MU2)
113811734
113834674
22941
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case122687L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
113593752
113657414
63663
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case154267L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
112711563
112829865
118303
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case60966-L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
113888062
113905108
17047
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case79449
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
110018678
110044064
25387
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case87285
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
111741930
111751469
9540
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1477-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: no.
110728337
110864283
135947
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
113330535
113347907
17373
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11093.p1
8.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 76
113842344
113845386
3043
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11114.p1
8.8
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
111029653
111098935
69283
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11122.p1
7.8
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
110080755
110109174
28420
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11196.p1
12.1
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 117; verbal IQ, 106
114294290
114339545
45256
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11246.p1
8.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
112656233
112671625
15393
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11257.p1
5.5
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 118
114241581
114280254
38674
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11285.p1
15.3
M
Autism
NA
Full-scale IQ, 13; non-verbal IQ, 20; verbal IQ, 5
111025082
111047360
22279
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11834.p1
10.5
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 93; verbal IQ, 46
113810701
113827423
16723
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11989.p1
9.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
114334878
114339545
4668
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
113579480
113583346
3867
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
113118393
113120154
1762
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12426.p1
8.1
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
110089850
110109174
19325
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12434.p1
5.3
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 121; verbal IQ, 106
114051114
114339545
288432
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12606.p1
11.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 59; verbal IQ, 62
110089850
110109174
19325
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12623.p1
6.7
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 98; verbal IQ, 95
112656233
112671625
15393
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12798.p1
4.8
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65
33824
35632
1809
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12933.p1
10
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 41; verbal IQ, 44
111031119
111047360
16242
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13001.p1
6.3
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46
111028033
111096769
68737
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13063.p1
7.8
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 62; verbal IQ, 30
113810701
113834827
24127
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case456
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
110717309
110754049
36741
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case457
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
114221971
114342910
120940
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case458
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
114299160
114342910
43751
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-control10457
N/A
M
Control
Control
114051114
114330230
279117
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB182878_1007875343
N/A
N/A
Control
No previous psychiatric history
113109474
113144570
35097
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB394441_1007874856
N/A
N/A
Control
No previous psychiatric history
114241581
114287680
46100
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB640981_1007874885
N/A
N/A
Control
No previous psychiatric history
114183099
114220400
37302
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB806145_1007873615
N/A
N/A
Control
No previous psychiatric history
111029653
111098935
69283
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB983717_1007842477
N/A
N/A
Control
No previous psychiatric history
113754200
113820249
66050
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900023_900023
N/A
N/A
Control
No previous psychiatric history
111028033
111098714
70682
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900425_900425
N/A
N/A
Control
No previous psychiatric history
111028033
111098935
70903
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900977_900977
N/A
N/A
Control
No previous psychiatric history
111028033
111103066
75034
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902547_902547
N/A
N/A
Control
No previous psychiatric history
111029653
111096769
67117
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control11190.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11190. SRS score of 55.
110523664
110667473
143810
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control11196.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11196. SRS score of 53.
114242120
114326281
84162
GRCh38
Duplication
No (False Positive)
krumm_13_ASD_discovery_controls-control12829.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12829. SRS score of 70.
113483839
113520733
36895
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_controls-control13063.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13063. SRS score of 41.
113811735
113828711
16977
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11107.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
114244879
114286402
41524
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11190.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
110511933
110677103
165171
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11196.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
114236644
114326281
89638
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12220.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113820863
113832488
11626
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12829.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113483839
113520733
36895
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13063.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113811735
113832488
20754
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14063.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113045270
113077211
31942
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14065.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
114250548
114281846
31299
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14181.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113811735
113834672
22938
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14417.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
44700
132928
88229
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11190.s1
NA
F
Control
NA
NA
110514668
110681003
166336
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control15
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control16
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control17
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control18
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control19
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control20
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nord_11_ASD_discovery_controls-04C27219
Control
109227139
109239301
12163
Unknown
Deletion
nord_11_ASD_discovery_controls-04C27504
Control
110176181
110191110
14930
Unknown
Deletion
nord_11_ASD_discovery_controls-04C28078
Control
114013930
114054833
40904
Unknown
Duplication
poultney_13_ASD_discovery_controls-control05C39645A
N/A
F
Control
NIMH Control (NIMH ID 69540)
113811734
113832754
21021
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C41452A
N/A
M
Control
NIMH Control (NIMH ID 70653)
113811734
113832754
21021
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C42565A
N/A
F
Control
NIMH Control (NIMH ID 16442)
113811734
113834674
22941
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
113842344
113845386
3043
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
113842344
113845386
3043
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11085.s1
8.5
F
Control (matched sibling)
NA
NA
110089850
110109174
19325
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11190.s1
6.8
F
Control (matched sibling)
NA
NA
110516141
110678058
161918
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11256.s1
14
M
Control (matched sibling)
NA
NA
110089850
110109174
19325
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11285.s1
16.4
M
Control (matched sibling)
NA
NA
111025082
111047360
22279
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11488.s1
7.7
M
Control (matched sibling)
NA
NA
113842344
113845386
3043
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11834.s1
8.3
M
Control (matched sibling)
NA
NA
110089850
110109174
19325
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12015.s1
9
F
Control (matched sibling)
NA
NA
111031119
111047360
16242
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12048.s1
10.3
F
Control (matched sibling)
NA
NA
111028033
111098935
70903
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12426.s1
4.7
F
Control (matched sibling)
NA
NA
110089850
110109174
19325
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12623.s1
8.8
M
Control (matched sibling)
NA
NA
112656233
112671625
15393
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12894.s1
4.9
F
Control (matched sibling)
NA
NA
110089850
110109174
19325
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12933.s1
7.2
F
Control (matched sibling)
NA
NA
111031119
111047360
16242
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13001.s1
7.4
M
Control (matched sibling)
NA
NA
111028033
111098935
70903
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
amenta_23_DD_discovery_cases-case3
De novo
Simplex
Segregated
UPF3A,CHAMP1,CLCP2,MIR4502,MIR548AR,CFAP97D2,LINC01054,CDC16
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
ARHGEF7-AS2,ARHGEF7
charalsawadi_14_ASD/ID_discovery_cases-case1
FISH, solid phase hybridization (Illumina HumanCytoSNP-12 v2.1)
De novo
F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC01054,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,CUL4A,UPF3A
chaves_19_ASD/DD/ID_discovery_cases-case61
Unknown
LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC01054,DCUN1D2,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,UPF3A
chaves_24_ASD/DD/ID_discovery_cases-case646
Unknown
ATP4B,DCUN1D2,TMCO3,UPF3A,ADPRHL1,GAS6,CHAMP1,TMEM255B,LINC00452,GAS6-AS1,CLCP2,LINC00552,GAS6-DT,MIR4502,C13orf46,LINC00565,MIR548AR,RASA3-IT1,LINC00454,RNU1-16P,DCUN1D2-AS,GRK1,CFAP97D2,LINC01054,TFDP1,CDC16,RASA3
engchuan_15_ASD_discovery_cases-case14344_4580
Unknown
LINC00368
engchuan_15_ASD_discovery_cases-case14378_4910
Unknown
LINC00368
engchuan_15_ASD_discovery_cases-case21035_1
Unknown
RN7SL783P
engchuan_15_ASD_discovery_cases-case2289_1
Unknown
LINC00368
engchuan_15_ASD_discovery_cases-case3159_3
Unknown
ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,LINC00431,LINC00368,ARHGEF7-IT1,ANKRD10,ARHGEF7
engchuan_15_ASD_discovery_cases-case4463_1
Unknown
LINC00368
engchuan_15_ASD_discovery_cases-case4508_1
Unknown
engchuan_15_ASD_discovery_cases-case5013_3
Unknown
LINC00368
engchuan_15_ASD_discovery_cases-case5135_3
Unknown
FAM70B;FLJ44054;GAS6;GRK1
engchuan_15_ASD_discovery_cases-case5145_4
Unknown
GAS6-AS1,GAS6,TMEM255B
feliciano_19_ASD_discovery_cases-caseSP0033400
Paternal
Simplex
RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,UPF3A
null
gai_11_ASD_discovery_cases-AU1327304
Inherited
ADPRHL1, DCUN1D2, TMCO3
gai_11_ASD_discovery_cases-AU1327305
Inherited
ADPRHL1, DCUN1D2, TMCO3
girirajan_12_ASD/DD/ID_discovery_cases-case38025
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
RNU1-16P,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,TMCO3,TFDP1
girirajan_13a_ASD_discovery_cases-12434.p1
Unknown
Simplex
Unknown
RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC01054,CDC16,CHAMP1,RASA3,CFAP97D2,UPF3A
girirajan_13a_ASD_discovery_cases-13987.p1
Unknown
Simplex
Unknown
MIR8073,COL4A2-AS1,COL4A2-AS2,RAB20,COL4A1,COL4A2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000780
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR548AR,MIR4502,CDC16,CFAP97D2,UPF3A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001715
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GAS6,FAM70B,RASA3,CDC16,UPF3A,CHAMP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001770
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU1-16P,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,TMCO3,TFDP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002252
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,CUL4A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004064
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,UPF3A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004734
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,CUL4A,UPF3A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004843
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,LINC01070,CUL4A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005735
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,LINC01070,CUL4A,UPF3A
krumm_13_ASD_discovery_cases-case11196.p1
Maternal
Simplex
Not segregated
MIR548AR,MIR4502,CLCP2,CDC16,CHAMP1,UPF3A
krumm_13_ASD_discovery_cases-case11808.p1
Maternal
Simplex
Segregated
GRTP1
krumm_13_ASD_discovery_cases-case13063.p1
Maternal
Simplex
Not segregated
GAS6-AS1,GAS6,TMEM255B
krumm_15_ASD_discovery_cases-case11196.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR548AR,MIR4502,CLCP2,CDC16,CHAMP1,UPF3A
krumm_15_ASD_discovery_cases-case11257.p1
Illumina 1M
Maternal
Simplex
Segregated
MIR548AR,MIR4502,CDC16,UPF3A
krumm_15_ASD_discovery_cases-case11834.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
GAS6-AS1,GAS6,TMEM255B
krumm_15_ASD_discovery_cases-case12220.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
GAS6-AS1,GAS6,TMEM255B
krumm_15_ASD_discovery_cases-case12434.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
RASA3-IT1,MIR548AR,MIR4502,CLCP2,CDC16,CHAMP1,RASA3,CFAP97D2,UPF3A
krumm_15_ASD_discovery_cases-case13063.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
GAS6-AS1,GAS6,TMEM255B
krumm_15_ASD_discovery_cases-case13106.p1
1M-Duov3
Paternal
Simplex
Segregated
GAS6-AS1,GAS6,TMEM255B
krumm_15_ASD_discovery_cases-case13294.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
GAS6-AS1,GAS6,TMEM255B
krumm_15_ASD_discovery_cases-case13796.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
MIR548AR,CDC16
krumm_15_ASD_discovery_cases-case13987.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
COL4A2-AS1,COL4A2-AS2,RAB20,COL4A2,NAXD
kushima_22_BPD_discovery_cases-caseBD1548
qRT-PCR
Unknown
UPF3A,GAS6,CHAMP1,TMEM255B,LINC00452,GAS6-AS1,CLCP2,GAS6-DT,MIR4502,C13orf46,LINC00565,MIR548AR,RASA3-IT1,LINC00454,CFAP97D2,LINC01054,CDC16,RASA3
levy_11_ASD_discovery_cases-12434.p1
Paternal
Simplex
Segregated
RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC01054,CDC16,CHAMP1,RASA3,CFAP97D2,UPF3A
maini_18_ASD/DD/ID_discovery_cases-case152
Maternal
Simplex
Unknown
LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,LINC01044,ATP11A,MCF2L,F7,TMCO3,CUL4A
marshall_08_ASD_discovery_cases-MM0295-003
qPCR, qmPCR
Unknown
NA
NA
GAS6-DT,LINC00454,LINC00565,GAS6-AS1,GAS6,TMEM255B,LINC00452
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530549
Unknown
ATP4B,DCUN1D2,TMCO3,UPF3A,GRTP1,ADPRHL1,GAS6,CHAMP1,TMEM255B,LINC00452,GAS6-AS1,CLCP2,LINC00552,LAMP1,LDHBP1,GAS6-DT,MIR4502,C13orf46,LINC00565,MIR548AR,RASA3-IT1,LINC00454,RNU1-16P,DCUN1D2-AS,GRTP1-AS1,GRK1,CFAP97D2,RPL23AP97,MIR8075,LINC01054,TFDP1,CDC16,CUL4A,RASA3
nguyen_13_DD/ID/MCA/ASD_discovery_cases-248205
Unknown
Unknown
Unknown
F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,CUL4A,UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-248940
De novo
Unknown
Possibly segregated
MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-250433
Unknown
Unknown
Unknown
F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC01054,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,CUL4A,UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-260546
De novo
Unknown
Possibly segregated
LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,LINC01070,CUL4A,UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC16621
FISH
Unknown
Unknown
Unknown
F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC01054,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,CUL4A,UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC24735
FISH
Maternal (balanced carrier)
Unknown
Unknown
MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC01054,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC28402
FISH
Unknown
Unknown
Unknown
RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36677
FISH
Unknown
Unknown
Unknown
F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,CUL4A,UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC37523
FISH
Unknown
Unknown
Unknown
GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC01054,GAS6,C13orf46,CDC16,CHAMP1,LINC00452,RASA3,CFAP97D2,UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC38199
FISH
Unknown
Unknown
Unknown
MIR548AR,MIR4502,CLCP2,CDC16,UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC44799
FISH
Unknown
Unknown
Unknown
F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,CUL4A,UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC51160
FISH
Unknown
Unknown
Unknown
LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,LINC01044,ATP11A,MCF2L,F7,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,ARHGEF7,LINC01070,CUL4A,UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC64285
FISH
Unknown
Unknown
Unknown
MIR8075,LDHBP1,RNU1-16P,LINC00552,GAS6-DT,LINC00454,LINC00565,RASA3-IT1,MIR548AR,MIR4502,CLCP2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,DCUN1D2,DCUN1D2-AS,ATP4B,GRK1,GAS6-AS1,GAS6,C13orf46,CDC16,CHAMP1,TMCO3,TFDP1,TMEM255B,LINC00452,RASA3,CFAP97D2,CUL4A,UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient159
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient160
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient161
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient162
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient163
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient164
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient165
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient166
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient167
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient168
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient169
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient170
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient171
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient172
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient173
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient174
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient175
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient176
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient177
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient178
Unknown
Unknown
Unknown
Minimum CNV gene content: UPF3A
pinto_10_ASD_discovery_cases-case5013_3
Agilent1M
maternal
NA
NA
LINC00368
pinto_10_ASD_discovery_cases-case5135_3
Agilent1M
maternal
NA
NA
ATP4B,FLJ44054,GRK1,FAM70B,RASA3,GAS6
pinto_10_ASD_discovery_cases-case5145_4
Agilent1M
paternal
NA
NA
GAS6-AS1,GAS6,TMEM255B
pinto_14_ASD_discovery_cases2-case9879_202
qPCR
Maternal
Simplex
(not tested)
RNU1-16P,ADPRHL1,DCUN1D2,DCUN1D2-AS,TMCO3
poultney_13_ASD_discovery_cases-case00HI1548A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
GAS6-AS1,GAS6,TMEM255B
poultney_13_ASD_discovery_cases-case03HI2537A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
GAS6-AS1,GAS6,TMEM255B
poultney_13_ASD_discovery_cases-case05HI4355A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
GAS6-AS1,GAS6,TMEM255B
poultney_13_ASD_discovery_cases-case98HI0631B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
GAS6-AS1,GAS6,TMEM255B
prasad_12_ASD_discovery_cases-case122687L
Unknown
Unknown
Unknown
FAM70B
prasad_12_ASD_discovery_cases-case154267L
Unknown
Simplex
Unknown
F10,MCF2L,F7
prasad_12_ASD_discovery_cases-case60966-L
Unknown
Unknown
Unknown
RASA3
prasad_12_ASD_discovery_cases-case79449
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case87285
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1477-0
qPCR
Unknown
Unknown
Unknown
RPL21P107,LINC00567,LINC00346
sanders_11_ASD_discovery_cases-11049.p1
Maternal
Simplex (quad-proband matched)
Segregated
GRTP1
sanders_11_ASD_discovery_cases-11093.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GAS6-AS1,GAS6
sanders_11_ASD_discovery_cases-11114.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00368
sanders_11_ASD_discovery_cases-11122.p1
Paternal
Simplex (trio)
NA
RN7SL783P
sanders_11_ASD_discovery_cases-11196.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CLCP2,LINC01054,CHAMP1,UPF3A
sanders_11_ASD_discovery_cases-11246.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP11AUN
sanders_11_ASD_discovery_cases-11257.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR548AR,MIR4502,CDC16
sanders_11_ASD_discovery_cases-11285.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11834.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GAS6-AS1,GAS6,TMEM255B
sanders_11_ASD_discovery_cases-11989.p1
Both parents
Simplex (quad-proband matched)
Segregated
CHAMP1
sanders_11_ASD_discovery_cases-12184.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12424.p1
Maternal
Simplex (quad-proband matched)
Not segregated
F7
sanders_11_ASD_discovery_cases-12426.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RN7SL783P
sanders_11_ASD_discovery_cases-12434.p1
Paternal
Simplex (quad-proband matched)
Segregated
RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC01054,CDC16,CHAMP1,RASA3,CFAP97D2,UPF3A
sanders_11_ASD_discovery_cases-12606.p1
Paternal
Simplex (trio)
NA
RN7SL783P
sanders_11_ASD_discovery_cases-12623.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ATP11AUN
sanders_11_ASD_discovery_cases-12798.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12933.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13001.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00368
sanders_11_ASD_discovery_cases-13063.p1
Both parents
Simplex (quad-proband matched)
Not segregated
GAS6-AS1,GAS6,TMEM255B
yin_16_ASD_discovery_cases-case456
Unknown
Unknown
Unknown
ING1
yin_16_ASD_discovery_cases-case457
Unknown
Unknown
Unknown
MIR548AR,MIR4502,CLCP2,LINC01054,CDC16,CHAMP1,CFAP97D2,UPF3A
yin_16_ASD_discovery_cases-case458
Unknown
Unknown
Unknown
CLCP2,LINC01054,CHAMP1,UPF3A
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10457
Unknown
RASA3-IT1,MIR548AR,MIR4502,CLCP2,LINC01054,CDC16,CHAMP1,RASA3,CFAP97D2,UPF3A
engchuan_15_ASD_discovery_controls-controlB182878_1007875343
Unknown
F10-AS1,F10,KARSP2,F7
engchuan_15_ASD_discovery_controls-controlB394441_1007874856
Unknown
MIR548AR,MIR4502,CDC16,UPF3A
engchuan_15_ASD_discovery_controls-controlB640981_1007874885
Unknown
CFAP97D2
engchuan_15_ASD_discovery_controls-controlB806145_1007873615
Unknown
LINC00368
engchuan_15_ASD_discovery_controls-controlB983717_1007842477
Unknown
GAS6-AS1,TMEM255B
engchuan_15_ASD_discovery_controls-controlHABC_900023_900023
Unknown
LINC00368
engchuan_15_ASD_discovery_controls-controlHABC_900425_900425
Unknown
LINC00368
engchuan_15_ASD_discovery_controls-controlHABC_900977_900977
Unknown
LINC00368
engchuan_15_ASD_discovery_controls-controlHABC_902547_902547
Unknown
LINC00368
krumm_13_ASD_discovery_controls-control11190.s1
Maternal
Simplex
RAB20,CARS2,NAXD
krumm_13_ASD_discovery_controls-control11196.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
MIR548AR,MIR4502,CLCP2,CDC16,CHAMP1,UPF3A
krumm_13_ASD_discovery_controls-control12829.s1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
DCUN1D2,TMCO3
krumm_13_ASD_discovery_controls-control13063.s1
Maternal
Simplex
GAS6-AS1,GAS6,TMEM255B
krumm_15_ASD_discovery_controls-control11107.s1
Illumina 1M
De novo
MIR4502,CDC16,UPF3A
krumm_15_ASD_discovery_controls-control11190.s1
Illumina 1M
Maternal
RAB20,CARS2,COL4A2,NAXD
krumm_15_ASD_discovery_controls-control11196.s1
Illumina 1M
Maternal
MIR548AR,MIR4502,CLCP2,CDC16,CHAMP1,UPF3A
krumm_15_ASD_discovery_controls-control12220.s1
Illumina 1MDuo
Maternal
GAS6-AS1,GAS6
krumm_15_ASD_discovery_controls-control12829.s1
Illumina 1MDuo
Maternal
DCUN1D2,TMCO3
krumm_15_ASD_discovery_controls-control13063.s1
Illumina 1MDuo
Maternal
GAS6-AS1,GAS6,TMEM255B
krumm_15_ASD_discovery_controls-control14063.s1
Omni2.5-4v1
De novo
MCF2L
krumm_15_ASD_discovery_controls-control14065.s1
Omni2.5-4v1
Paternal
MIR4502,CDC16,UPF3A
krumm_15_ASD_discovery_controls-control14181.s1
Omni2.5-4v1
Maternal
GAS6-AS1,GAS6,TMEM255B
krumm_15_ASD_discovery_controls-control14417.s1
Omni2.5-4v1
Paternal
levy_11_ASD_discovery_controls-11190.s1
Maternal
Simplex
NA
RAB20,CARS2,NAXD
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control15
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control16
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control17
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control18
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control19
Unknown
Unknown
Minimum CNV gene content: UPF3A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control20
Unknown
Unknown
Minimum CNV gene content: UPF3A
nord_11_ASD_discovery_controls-04C27219
IRS2
nord_11_ASD_discovery_controls-04C27504
0 genes
nord_11_ASD_discovery_controls-04C28078
CDC16
poultney_13_ASD_discovery_controls-control05C39645A
Unknown
GAS6-AS1,GAS6,TMEM255B
poultney_13_ASD_discovery_controls-control05C41452A
Unknown
GAS6-AS1,GAS6,TMEM255B
poultney_13_ASD_discovery_controls-control05C42565A
Unknown
GAS6-AS1,GAS6,TMEM255B
sanders_11_ASD_discovery_controls-11033.s1
Both parents
Simplex (quad)
NA
GAS6-AS1,GAS6
sanders_11_ASD_discovery_controls-11041.s1
Both parents
Simplex (quad)
NA
GAS6-AS1,GAS6
sanders_11_ASD_discovery_controls-11085.s1
Maternal
Simplex (quad)
NA
RN7SL783P
sanders_11_ASD_discovery_controls-11190.s1
Maternal
Simplex (quad)
NA
RAB20,CARS2,NAXD
sanders_11_ASD_discovery_controls-11256.s1
Paternal
Simplex (quad)
NA
RN7SL783P
sanders_11_ASD_discovery_controls-11285.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11488.s1
Maternal
Simplex (quad)
NA
GAS6-AS1,GAS6
sanders_11_ASD_discovery_controls-11834.s1
Maternal
Simplex (quad)
NA
RN7SL783P
sanders_11_ASD_discovery_controls-12015.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12048.s1
Maternal
Simplex (quad)
NA
LINC00368
sanders_11_ASD_discovery_controls-12426.s1
Maternal
Simplex (quad)
NA
RN7SL783P
sanders_11_ASD_discovery_controls-12623.s1
Paternal
Simplex (quad)
NA
ATP11AUN
sanders_11_ASD_discovery_controls-12894.s1
Maternal
Simplex (quad)
NA
RN7SL783P
sanders_11_ASD_discovery_controls-12933.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13001.s1
Maternal
Simplex (quad)
NA
LINC00368
No Animal Model Data Available