12q13.13CNV Type: Deletion-Duplication
Largest CNV size: 90183 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
A duplication of unknown origin in the 12q13.13 locus was identified in a proband with ADHD and bipolar disorder as part of a screen for cases with CHRNA7 duplications (Gillentine et al., 2016).
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
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
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.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
362
2
0
2
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
2563
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
31000
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
91038
0
7
7
gillentine_16_ASD/ADHD/DD/ID_discovery_cases
18 patients from 17 families evaluated by providers at Texas Children's Hospital and tested by clinical chromosomal microarray (CMA) by the Baylor Genetics Laboratory (BGL) or Signature Genomic Laboratory for CHRNA7 duplications
18
7/17 cases met criteira for ASD based on clinical impression; 11/18 cases presented with ADHD. Cognitive and behavioral testing included the Differential Ability Scales, Second Edition (DAS-II), the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavioral Assessment for Children, Second Edition (BASC-2).
Average, 9.9 years
66.67% Male
73358
0
1
1
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
158298
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
998426
2
1
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
4506
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
80658
6
2
8
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
39944
0
1
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
53116
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
59000
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
88289
0
2
2
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
261626
6
11
17
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
60798
1
3
4
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
90183
15
5
20
xu_08_WAGR/ASD/DD/ID_discovery_cases
Patients with WAGR syndrome and de novo deletions in the 11p14-p12 region previously detected by FISH
31
All 31 patients diagnosed with WAGR syndrome; neurodevelopmental comorbidities within this cohort include intellectual disability, developmental delay, autism, ADHD, seizures, anxiety, obsessive-compulsive behaviors, and speech delay/speech disorder
Range, 3-46 yrs.
45.16% Male
100100
0
1
1
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
362
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
91038
0
15
15
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
37915
0
1
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
4506
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
80658
2
6
8
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
39944
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
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)
611054
1
9
10
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)
60798
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.
91038
9
5
14
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gillentine_16_ASD/ADHD/DD/ID_discovery_cases
N/A
CMA
Platform N/A
None
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
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)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
xu_08_WAGR/ASD/DD/ID_discovery_cases
N/A
aCGH
Agilent 4x44K, custom Agilent array
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
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_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)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
brandler_18_ASD_discovery_cases-caseREACH000597
N/A
M
ASD
Case from REACH cohort
53480778
53481140
363
GRCh38
Deletion
No
brandler_18_ASD_discovery_cases-caseREACH000601
N/A
F
ASD
Case from REACH cohort
53480778
53481140
363
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU4029301
N/A
M
ASD
Case from MSSNG cohort
54395489
54398051
2563
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300204
N/A
F
Developmental delay/intellectual disability
53412676
53443929
31254
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1960_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52297319
52385607
88289
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4161_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52297319
52388357
91039
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4472_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52297319
52388357
91039
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5268_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
51855881
51893584
37704
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6321_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52297319
52388357
91039
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6347_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52297319
52388357
91039
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8654_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52297319
52380521
83203
GRCh38
Duplication
No
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient13
12 yrs.
F
ADHD and bipolar disorder
Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Bipolar disorder, possible ADHD, behavioral problems, suicidal tendencies, prenatal exposure to teratogens, scoliosis, chromosomal abnormality. Developmental milestones: sitting at 5 months, crawling at 9 months, walking at 12 months, first word at 10 months, two word sentences at 12 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 50th %ile, weight 90th %ile, OFC N/A. Ethnicity: Caucasian. Family history: carrier parental phenotype, father has a history of bipolar disorder, PTSD, and substance abuse; noncarrier parental phenotype, mother has a history of anxiety.
Full scale ratio IQ (DAS-II): 87.
52309130
52382487
73358
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case8
10 yrs.
F
Developmental delay/intellectual disability
Facial dysmorphisms, single transverse palmar crease, pectus excavatum, seizures, short neck
Developmental delay/intellectual disability
50410176
50568474
158299
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001598
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
53224024
54222450
998427
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003875
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
53099658
53724525
624868
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004742
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
49840075
50315208
475134
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11114.p1
N/A
F
ASD
ASD proband from SSC quad family 11114. SRS score of 90.
Full-scale IQ (FSIQ) score of 40.
52381079
52385585
4507
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11114.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
52304929
52385587
80659
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11267.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
52692420
52696452
4033
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11824.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
52692420
52692882
463
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12380.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
52692420
52692882
463
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12417.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
52691905
52692882
978
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12853.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
52304929
52385587
80659
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13975.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
53103577
53105620
2044
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14264.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
52692754
52694792
2039
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-12346.p1
NA
M
ASD
NA
NA
50203706
50243649
39944
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0110-003
NA
M
ASD
NA
NA
51840349
51893465
53117
GRCh38
Duplication
Yes
nava_13_ASD_discovery_cases-Fam1116Proband10786
N/A
M
ASD
Additional clinical profile info N/A
ID
52307183
52366155
58973
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case1960_301
NA
F
Autism
Verbal, floppy infant, gastrointestinal problems
MR
52297319
52385607
88289
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5268_3
NA
M
ASD
NA
NA
51855881
51893584
37704
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case00HI1375A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU070003; NDAR ID NDAR_INVLD035LX2)
52791206
52794331
3126
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case00HI1529A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU066505; NDAR ID NDAR_INVUA131LWQ)
52490567
52520298
29732
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case01HI2126A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU041105; NDAR ID NDAR_INVKP691XLT)
52447188
52449635
2448
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case03HI2580A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0924301; NDAR ID NDAR_INVCE056PE7)
51457349
51497180
39832
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case03HI2646A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0971301; NDAR ID NDAR_INVFR912ADL)
52288359
52385587
97229
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3489A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1370302; NDAR ID NDAR_INVUT637CTZ)
52469060
52473739
4680
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0186A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU013903; NDAR ID NDAR_INVNL660AW7)
52450010
52471734
21725
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0266B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU017504; NDAR ID NDAR_INVWK082CR2)
52449467
52471734
22268
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case99HI0694B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
52362249
52490735
128487
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0694B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
52547855
52809480
261626
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0694B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
51976325
52013945
37621
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0694B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
51453537
51493774
40238
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0694B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
54399862
54404248
4387
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0694B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
53214057
53309283
95227
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1012A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU050403; NDAR ID NDAR_INVYA296PUB)
52304930
52385587
80658
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
54241753
54342289
100537
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
54499353
54516297
16945
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case64380L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
50517750
50577379
59630
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case69183
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
50517750
50578547
60798
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. Novel CNV
50584853
50597866
13014
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case98105
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
53007676
53011876
4201
Unknown
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
52298174
52385607
87434
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11506.p1
7
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82
52298174
52388357
90184
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11612.p1
10.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 90; verbal IQ, 79
53180119
53193038
12920
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11895.p1
7.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 79
52136708
52139034
2327
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
52136424
52139034
2611
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12044.p1
5.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
52452147
52470991
18845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12076.p1
9.8
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 98
52452147
52470991
18845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
52841767
52854165
12399
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
50444794
50448965
4172
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12212.p1
12.3
M
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 29; verbal IQ, 20
53180119
53193038
12920
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
50841935
50843148
1214
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12355.p1
4.6
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55
52136708
52139034
2327
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12805.p1
8.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
49781597
49816980
35384
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12853.p1
9.8
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
52297319
52380586
83268
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12878.p1
6.1
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 111; verbal IQ, 120
53180119
53193038
12920
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12976.p1
4.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ, 82
53180119
53193038
12920
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13045.p1
11.1
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 38; verbal IQ, 35
53180119
53187018
6900
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13097.p1
9.9
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
52136424
52139475
3052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13097.p1
9.9
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
52846241
52854165
7925
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13304.p1
6.9
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 61; verbal IQ, 111
53916350
53922523
6174
GRCh38
Deletion
No
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF20a
15 yrs.
M
WAGR syndrome, ASD, DD, and ID
Autism, developmental delay, anxiety, ADHD, obsessive-compulsive, speech disorder
Intellectual disability
54181697
54281808
100112
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-controlREACH000600
N/A
F
Control
Control from REACH cohort
53480778
53481140
363
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036020998_
N/A
N/A
Control
No previous psychiatric history
52316253
52385607
69355
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB138586_1007853956
N/A
N/A
Control
No previous psychiatric history
52298174
52385607
87434
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB290151_1007874667
N/A
N/A
Control
No previous psychiatric history
52297319
52388357
91039
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB370005_1007844590
N/A
N/A
Control
No previous psychiatric history
52297319
52383822
86504
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB592971_1007873531
N/A
N/A
Control
No previous psychiatric history
52298174
52388357
90184
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB742681_1007852619
N/A
N/A
Control
No previous psychiatric history
52297319
52388357
91039
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB913963_1007845346
N/A
N/A
Control
No previous psychiatric history
52297319
52388357
91039
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB974038_1007854681
N/A
N/A
Control
No previous psychiatric history
52297319
52388357
91039
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB979317_1007842460
N/A
N/A
Control
No previous psychiatric history
51840378
51893584
53207
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
N/A
N/A
Control
No previous psychiatric history
52297319
52383752
86434
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902552_902552
N/A
N/A
Control
No previous psychiatric history
52298423
52388357
89935
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902603_902603
N/A
N/A
Control
No previous psychiatric history
52331517
52383822
52306
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902794_902794
N/A
N/A
Control
No previous psychiatric history
52297319
52388357
91039
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902887_902887
N/A
N/A
Control
No previous psychiatric history
52297319
52388357
91039
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902958_902958
N/A
N/A
Control
No previous psychiatric history
52297319
52385607
88289
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1904
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
52699728
52737642
37915
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control11114.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11114. SRS score of 39.
52381079
52385585
4507
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11114.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
52304929
52385587
80659
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11187.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
54002429
54034492
32064
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11393.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
52304929
52385587
80659
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12853.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
52304929
52385587
80659
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12955.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
52304929
52385587
80659
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13456.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
52304929
52385587
80659
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13889.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
52692754
52694792
2039
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13910.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
52304929
52385587
80659
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-12346.s1
NA
M
Control
NA
NA
50203706
50243649
39944
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C37412B
N/A
M
Control
NIMH Control (NIMH ID 36050)
53467219
53483725
16507
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C38261A
N/A
F
Control
NIMH Control (NIMH ID 94269)
51888185
51891307
3123
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C40203A
N/A
M
Control
NIMH Control (NIMH ID 91022)
52304930
52385587
80658
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C40631
N/A
F
Control
NIMH Control (NIMH ID 80004)
52447776
52488550
40775
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
53214057
53314443
100387
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
51118619
51495120
376502
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
54399862
54404248
4387
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
52447776
53058829
611054
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
52315891
52385587
69697
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
54500531
54577542
77012
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11114.s1
11.6
F
Control (matched sibling)
NA
NA
52312964
52325469
12506
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11114.s1
11.6
F
Control (matched sibling)
NA
NA
52367685
52384988
17304
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11196.s1
10
M
Control (matched sibling)
NA
NA
52297319
52388357
91039
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11818.s1
14.3
F
Control (matched sibling)
NA
NA
52841767
52854165
12399
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12076.s1
6.2
M
Control (matched sibling)
NA
NA
52452147
52470991
18845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12274.s1
7.6
F
Control (matched sibling)
NA
NA
52841767
52854165
12399
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
53984552
53986216
1665
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12621.s1
8.8
M
Control (matched sibling)
NA
NA
53180119
53187018
6900
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12853.s1
8
M
Control (matched sibling)
NA
NA
52297319
52388357
91039
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12859.s1
6.6
M
Control (matched sibling)
NA
NA
52136708
52139034
2327
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12955.s1
9.5
M
Control (matched sibling)
NA
NA
52316253
52385607
69355
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12977.s1
5.3
M
Control (matched sibling)
NA
NA
52136424
52139475
3052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
52136424
52139034
2611
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13266.s1
7.9
F
Control (matched sibling)
NA
NA
53570349
53585721
15373
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseREACH000597
Not available
Paternal
MAP3K12,PCBP2
brandler_18_ASD_discovery_cases-caseREACH000601
Not available
Paternal
MAP3K12,PCBP2
brandler_18_ASD_replication_cases-caseAU4029301
No validation step reported
Maternal
ITGA5
digregorio_17_DD/ID_discovery_cases-DECIPHER_300204
Unknown
SP1,AMHR2,PRR13
engchuan_15_ASD_discovery_cases-case1960_301
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
engchuan_15_ASD_discovery_cases-case4161_1
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
engchuan_15_ASD_discovery_cases-case4472_1
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
engchuan_15_ASD_discovery_cases-case5268_3
Unknown
ANKRD33
engchuan_15_ASD_discovery_cases-case6321_3
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
engchuan_15_ASD_discovery_cases-case6347_3
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
engchuan_15_ASD_discovery_cases-case8654_201
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient13
Unknown
Multi-generational
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
iourov_12_ASD/ID/EP_discovery_cases-case8
Unknown
Unknown
Unknown
LARP4,DIP2B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001598
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MFSD5,C12orf10,PCBP2-OT1,TARBP2,NPFF,RN7SKP289,HOXC13,HOXC12,HOXC11,MIR196A2,HOXC-AS2,HOXC-AS1,HOXC8,MIR615,SMUG1-AS1,ESPL1,PFDN5,AAAS,SP7,SP1,AMHR2,PRR13,MAP3K12,ATP5MC2,CALCOCO1,CISTR,HOXC13-AS,HOTAIR,HOXC-AS3,HOXC10,HOXC4,HOXC5,FLJ12825,FAM242C,RARG,ATF7,HOXC6,HOXC9,SMUG1,LINC02381,PCBP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003875
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
VTI1BP3,RNU6-333P,HIGD1AP1,EIF4A1P4,MFSD5,C12orf10,PCBP2-OT1,TARBP2,NPFF,IGFBP6,SOAT2,CSAD,ZNF740,ITGB7,ESPL1,PFDN5,AAAS,SP7,SP1,AMHR2,PRR13,MAP3K12,ATP5MC2,CALCOCO1,RARG,ATF7,PCBP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004742
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL35AP28,LINC02396,AQP5,GPD1,MIR1293,RNU6-1093P,BCDIN3D-AS1,BCDIN3D,FAIM2,LINC02395,AQP2,AQP6,RACGAP1,SMARCD1,COX14,CERS5,ASIC1,LIMA1
krumm_13_ASD_discovery_cases-case11114.p1
Maternal
Simplex
Not segregated
KRT84
krumm_15_ASD_discovery_cases-case11114.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
KRT83,KRT89P,KRT85,KRT84,KRT86
krumm_15_ASD_discovery_cases-case11267.p1
Illumina 1M
De novo
Simplex
Not segregated (CNV in unaffected sibling)
KRT77
krumm_15_ASD_discovery_cases-case11824.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
KRT77
krumm_15_ASD_discovery_cases-case12380.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
KRT77
krumm_15_ASD_discovery_cases-case12417.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
KRT77
krumm_15_ASD_discovery_cases-case12853.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
KRT83,KRT89P,KRT85,KRT84,KRT86
krumm_15_ASD_discovery_cases-case13975.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
SOAT2
krumm_15_ASD_discovery_cases-case14264.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
KRT77
levy_11_ASD_discovery_cases-12346.p1
Paternal
Simplex
Not segregated
MIR1293,LIMA1
marshall_08_ASD_discovery_cases-SK0110-003
qPCR, qmPCR
Unknown
NA
NA
FIGNL2,ANKRD33
nava_13_ASD_discovery_cases-Fam1116Proband10786
Unknown
Simplex
Unknown
KRT83,KRT89P,KRT85,KRT86
pinto_10_ASD_discovery_cases-case1960_301
Illumina550
maternal
NA
NA
KRT83,KRT89P,KRT85,KRT84,KRT86
pinto_10_ASD_discovery_cases-case5268_3
Agilent1M
maternal
NA
NA
ANKRD33
poultney_13_ASD_discovery_cases-case00HI1375A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
KRT3
poultney_13_ASD_discovery_cases-case00HI1529A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
KRT6A,KRT5
poultney_13_ASD_discovery_cases-case01HI2126A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
KRT6B
poultney_13_ASD_discovery_cases-case03HI2580A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SLC4A8
poultney_13_ASD_discovery_cases-case03HI2646A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
KRT81,KRT83,KRT89P,KRT85,KRT84,KRT86
poultney_13_ASD_discovery_cases-case04HI3489A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
KRT6C
poultney_13_ASD_discovery_cases-case98HI0186A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
KRT6B,KRT6C
poultney_13_ASD_discovery_cases-case98HI0266B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
KRT6B,KRT6C
poultney_13_ASD_discovery_cases-case99HI0694B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
KRT6B,KRT6C,KRT6A,KRT85,KRT84,KRT82,KRT90P,KRT75
poultney_13_ASD_discovery_cases-case99HI0694B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
KRT71,KRT74,KRT128P,KRT2,KRT1,KRT126P,KRT125P,BTBD10P1,KRT127P,ARL2BPP2,KRT3,KRT4,KRT72,KRT73-AS1,KRT73,KRT76,KRT77
poultney_13_ASD_discovery_cases-case99HI0694B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU6-574P,GRASP,ACVR1B
poultney_13_ASD_discovery_cases-case99HI0694B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SLC4A8
poultney_13_ASD_discovery_cases-case99HI0694B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ITGA5
poultney_13_ASD_discovery_cases-case99HI0694B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MFSD5,C12orf10,ESPL1,PFDN5,AAAS,RARG
poultney_13_ASD_discovery_cases-case99HI1012A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RN7SL390P,HNRNPA1,RNU6-950P,MIR148B,NFE2,COPZ1,CBX5
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
NCKAP1L
prasad_12_ASD_discovery_cases-case64380L
Unknown
Unknown
Unknown
ANKRD33
prasad_12_ASD_discovery_cases-case69183
Unknown
Unknown
Unknown
ANKRD33
prasad_12_ASD_discovery_cases-case79449
Unknown
Unknown
Unknown
ACVRL1
prasad_12_ASD_discovery_cases-case98105
Unknown
Unknown
Unknown
COPZ1
sanders_11_ASD_discovery_cases-11114.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KRT83,KRT89P,KRT85,KRT84,KRT86
sanders_11_ASD_discovery_cases-11506.p1
Paternal
Simplex (trio)
NA
KRT83,KRT89P,KRT85,KRT84,KRT86
sanders_11_ASD_discovery_cases-11612.p1
Unknown
Simplex (trio)
NA
CSAD,ZNF740,ITGB7
sanders_11_ASD_discovery_cases-11895.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12009.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12044.p1
Maternal
Simplex (quad-proband matched)
Segregated
KRT6C
sanders_11_ASD_discovery_cases-12076.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KRT6C
sanders_11_ASD_discovery_cases-12102.p1
Unknown
Simplex (trio)
NA
KRT78
sanders_11_ASD_discovery_cases-12184.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LARP4
sanders_11_ASD_discovery_cases-12212.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CSAD,ZNF740,ITGB7
sanders_11_ASD_discovery_cases-12221.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
TMPRSS12
sanders_11_ASD_discovery_cases-12355.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12805.p1
Both parents
Simplex (trio)
NA
NCKAP5L
sanders_11_ASD_discovery_cases-12853.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KRT83,KRT89P,KRT85,KRT84,KRT86
sanders_11_ASD_discovery_cases-12878.p1
Paternal
Simplex (trio)
NA
CSAD,ZNF740,ITGB7
sanders_11_ASD_discovery_cases-12976.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CSAD,ZNF740,ITGB7
sanders_11_ASD_discovery_cases-13045.p1
Unknown
Simplex (trio)
NA
CSAD,ZNF740
sanders_11_ASD_discovery_cases-13097.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13097.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KRT78
sanders_11_ASD_discovery_cases-13304.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF20a
De novo
Possibly segregated
MIR3198-2,RN7SL390P,HNRNPA1,SMUG1,CBX5
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlREACH000600
Not available
Paternal
MAP3K12,PCBP2
engchuan_15_ASD_discovery_controls-control110036020998_
Unknown
KRT83,KRT89P,KRT85,KRT84
engchuan_15_ASD_discovery_controls-controlB138586_1007853956
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
engchuan_15_ASD_discovery_controls-controlB290151_1007874667
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
engchuan_15_ASD_discovery_controls-controlB370005_1007844590
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
engchuan_15_ASD_discovery_controls-controlB592971_1007873531
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
engchuan_15_ASD_discovery_controls-controlB742681_1007852619
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
engchuan_15_ASD_discovery_controls-controlB913963_1007845346
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
engchuan_15_ASD_discovery_controls-controlB974038_1007854681
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
engchuan_15_ASD_discovery_controls-controlB979317_1007842460
Unknown
FIGNL2,ANKRD33
engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
engchuan_15_ASD_discovery_controls-controlHABC_902552_902552
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
engchuan_15_ASD_discovery_controls-controlHABC_902603_902603
Unknown
KRT89P,KRT85,KRT84
engchuan_15_ASD_discovery_controls-controlHABC_902794_902794
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
engchuan_15_ASD_discovery_controls-controlHABC_902887_902887
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
engchuan_15_ASD_discovery_controls-controlHABC_902958_902958
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
kanduri_15_ASD_discovery_controls-control_split1904
Unknown
KRT83,KRT86
krumm_13_ASD_discovery_controls-control11114.s1
Maternal
Simplex
KRT84
krumm_15_ASD_discovery_controls-control11114.s1
Illumina 1M
Maternal
KRT83,KRT89P,KRT85,KRT84,KRT86
krumm_15_ASD_discovery_controls-control11187.s1
Illumina 1M
Maternal
HOXC8,MIR615,HOXC4,HOXC5,HOXC6,HOXC9
krumm_15_ASD_discovery_controls-control11393.s1
Illumina 1MDuo
Paternal
KRT83,KRT89P,KRT85,KRT84,KRT86
krumm_15_ASD_discovery_controls-control12853.s1
Illumina 1MDuo
Maternal
KRT83,KRT89P,KRT85,KRT84,KRT86
krumm_15_ASD_discovery_controls-control12955.s1
Illumina 1MDuo
Maternal
KRT83,KRT89P,KRT85,KRT84,KRT86
krumm_15_ASD_discovery_controls-control13456.s1
1M-Duov3
Paternal
KRT83,KRT89P,KRT85,KRT84,KRT86
krumm_15_ASD_discovery_controls-control13889.s1
Omni2.5-4v1
Paternal
KRT77
krumm_15_ASD_discovery_controls-control13910.s1
Omni2.5-4v1
Paternal
KRT83,KRT89P,KRT85,KRT84,KRT86
levy_11_ASD_discovery_controls-12346.s1
Paternal
Simplex
NA
MIR1293,LIMA1
poultney_13_ASD_discovery_controls-control04C37412B
Unknown
MAP3K12,PCBP2
poultney_13_ASD_discovery_controls-control04C38261A
Unknown
ANKRD33
poultney_13_ASD_discovery_controls-control05C40203A
Unknown
KRT83,KRT89P,KRT85,KRT84,KRT86
poultney_13_ASD_discovery_controls-control05C40631
Unknown
KRT6B,KRT6C,KRT6A
poultney_13_ASD_discovery_controls-control05C44621
Unknown
MFSD5,C12orf10,ESPL1,PFDN5,AAAS,RARG
poultney_13_ASD_discovery_controls-control05C44621
Unknown
PHBP19,RNU6-199P,POU6F1,BIN2,CELA1,TFCP2,DAZAP2,SMAGP,SLC4A8,GALNT6
poultney_13_ASD_discovery_controls-control05C44621
Unknown
ITGA5
poultney_13_ASD_discovery_controls-control05C44621
Unknown
KRT6B,KRT6C,KRT6A,KRT5,KRT71,KRT74,KRT128P,KRT2,KRT1,KRT126P,KRT125P,BTBD10P1,KRT127P,ARL2BPP2,KRT3,KRT4,RPL7P41,KRT18,MIR6757,KRT72,KRT73-AS1,KRT73,KRT76,KRT78,KRT8,EIF4B,TNS2,KRT77,KRT79
poultney_13_ASD_discovery_controls-control05C44621
Unknown
KRT83,KRT89P,KRT85,KRT84
poultney_13_ASD_discovery_controls-control05C44621
Unknown
PPP1R1A,PDE1B,NCKAP1L
sanders_11_ASD_discovery_controls-11114.s1
Maternal
Simplex (quad)
NA
KRT83
sanders_11_ASD_discovery_controls-11114.s1
Maternal
Simplex (quad)
NA
KRT84
sanders_11_ASD_discovery_controls-11196.s1
Maternal
Simplex (quad)
NA
KRT83,KRT89P,KRT85,KRT84,KRT86
sanders_11_ASD_discovery_controls-11818.s1
Unknown
Simplex (quad)
NA
KRT78
sanders_11_ASD_discovery_controls-12076.s1
Paternal
Simplex (quad)
NA
KRT6C
sanders_11_ASD_discovery_controls-12274.s1
Paternal
Simplex (quad)
NA
KRT78
sanders_11_ASD_discovery_controls-12555.s1
Unknown
Simplex (quad)
NA
HOXC-AS3,HOXC10
sanders_11_ASD_discovery_controls-12621.s1
Maternal
Simplex (quad)
NA
CSAD,ZNF740
sanders_11_ASD_discovery_controls-12853.s1
Maternal
Simplex (quad)
NA
KRT83,KRT89P,KRT85,KRT84,KRT86
sanders_11_ASD_discovery_controls-12859.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12955.s1
Maternal
Simplex (quad)
NA
KRT83,KRT89P,KRT85,KRT84
sanders_11_ASD_discovery_controls-12977.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13076.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13266.s1
Paternal
Simplex (quad)
NA
ATF7
No Animal Model Data Available