12p11.21CNV Type: Deletion-Duplication
Largest CNV size: 86062 bp
Statistics Box:
Number of Reports: 9
Number of Reports: 9
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
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
60
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
86062
6
2
8
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
188763
0
2
2
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
105546
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
517992
2
1
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
25680
0
2
2
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
137826
0
1
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
70000
0
1
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
65549
10
33
43
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
50655
2
0
2
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
49806
1
3
4
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
31911
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
14594
1
0
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
124275
11
17
28
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
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
aCGH (Agilent SurePrint G3, Agilent 4x180K or 8x60K)
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
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
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-caseSSC03033
N/A
M
ASD
Case from SSC cohort
33118304
33118364
61
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11149
NA
M
ASD
NA
NA
31114594
31200656
86063
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11197
NA
M
ASD
NA
NA
31114708
31200656
85949
GRCh38
Duplication
Yes
celestino-soper_11_ASD_discovery_cases-11303
NA
M
ASD
NA
NA
31124482
31201170
76689
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11413
NA
M
ASD
NA
NA
31114594
31200656
86063
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11469
NA
M
ASD
NA
NA
31124482
31200850
76369
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11524
NA
M
ASD
NA
NA
31114594
31200656
86063
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11550
NA
M
ASD
NA
NA
31124482
31200850
76369
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11577
NA
M
ASD
NA
NA
31114708
31200656
85949
GRCh38
Deletion
No
davis_09_ASD_discovery_cases-AU021903
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: Sotos syndrome
31116977
31305740
188763
Unknown
Duplication
No
davis_09_ASD_discovery_cases-AU1334302
NA
NA
Syndromic ASD
Diagnosis: broad spectrum autism. Syndromic autism features: micropthalmia. Family history: father diagnosed with depression, anxiety disorder, and ADHD.
31130867
31282170
151303
Unknown
Duplication
No
engchuan_15_ASD_discovery_cases-case5300_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31881618
31987164
105547
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002427
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
32731855
32881857
150003
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005146
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
32813258
32845018
31761
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005206
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
32104351
32622343
517993
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12158.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
30630859
30649232
18374
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13136.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
30953991
30979670
25680
GRCh38
Duplication
Yes
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
31116364
31254189
137826
GRCh38
Duplication
No
morrow_08_ASD_discovery_cases-case8301
NA
ASD
NA
NA
31224000
31294000
70000
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11094.p1
6.5
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 105; verbal IQ, 86
33141103
33152921
11819
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11111.p1
7.4
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ 100
31750837
31761209
10373
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11121.p1
10.3
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11144.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11161.p1
7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 74; verbal IQ, 59
31850394
31899488
49095
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11225.p1
11.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 98; verbal IQ 120
31850394
31910068
59675
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
31848581
31910068
61488
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11247.p1
5.8
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
31848581
31910068
61488
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11363.p1
5.9
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
31899488
31900901
1414
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11421.p1
7.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 51
33141103
33152921
11819
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11469.p1
15.9
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 97; verbal IQ, 128
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11472.p1
13.7
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11495.p1
5.2
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 120
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11510.p1
8.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11530.p1
8.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 88
31848581
31910068
61488
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11555.p1
9.1
F
Aspergers
NA
Full-scale IQ, 95; non-verbal IQ, 98; verbal IQ, 91
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11566.p1
7.6
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 92; verbal IQ, 100
31845047
31910068
65022
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11619.p1
5.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 105; verbal IQ, 108
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11711.p1
5.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
31894754
31900901
6148
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11855.p1
14.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
32724138
32731293
7156
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11863.p1
5.3
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 123; verbal IQ, 114
32178735
32181767
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11881.p1
9.5
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 90; verbal IQ, 89
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11922.p1
11.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 90
32724138
32731293
7156
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11972.p1
8.5
F
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 77
31848581
31910068
61488
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12001.p1
5.1
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12033.p1
10.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
32724138
32726412
2275
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12050.p1
5.5
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 64
31747616
31761209
13594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12101.p1
5.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 38
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12158.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
30609549
30649951
40403
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12286.p1
4.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
31747616
31761209
13594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12303.p1
9.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 74; verbal IQ, 96
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12392.p1
7
M
ASD
NA
Full-scale IQ, 103; non-verbal IQ, 102; verbal IQ, 105
32724138
32731293
7156
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12395.p1
5.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 81
32724138
32731293
7156
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12523.p1
6.1
M
ASD
NA
Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 95
31848581
31900901
52321
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12645.p1
4.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 84; verbal IQ, 94
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12648.p1
9.8
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 96; verbal IQ, 100
32724138
32731293
7156
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12787.p1
7.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12796.p1
5.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 72; verbal IQ, 68
31848581
31910068
61488
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12984.p1
10.1
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 102; verbal IQ, 96
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13018.p1
12.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75
31850394
31915943
65550
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13077.p1
11.4
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
31747616
31761209
13594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13136.p1
6.5
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
30952336
30979544
27209
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13146.p1
10.4
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
31747616
31761209
13594
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036006450_
N/A
N/A
Control
No previous psychiatric history
32003108
32053763
50656
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900560_900560
N/A
N/A
Control
No previous psychiatric history
31747616
31778725
31110
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1592
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
31357102
31406907
49806
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1781
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
31406809
31409579
2771
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split200
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
31385094
31406907
21814
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split494
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
32052422
32053835
1414
Unknown
Deletion
No
nord_11_ASD_discovery_controls-04C26509
Control
32464779
32496689
31911
Unknown
Duplication
poultney_13_ASD_discovery_controls-control05C39172A
N/A
F
Control
NIMH Control (NIMH ID 36222)
31087936
31102529
14594
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11012.s1
6.7
F
Control (matched sibling)
NA
NA
31899488
31900901
1414
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11074.s1
7.3
M
Control (matched sibling)
NA
NA
31750837
31761209
10373
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11106.s1
7.2
M
Control (matched sibling)
NA
NA
31848581
31910068
61488
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11121.s1
16.2
F
Control (matched sibling)
NA
NA
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11144.s1
14
F
Control (matched sibling)
NA
NA
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11289.s1
8
M
Control (matched sibling)
NA
NA
33136887
33152921
16035
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11469.s1
19.1
F
Control (matched sibling)
NA
NA
31848581
31910068
61488
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11472.s1
10.6
F
Control (matched sibling)
NA
NA
31848581
31899488
50908
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11502.s1
13.2
M
Control (matched sibling)
NA
NA
33141103
33152921
11819
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11627.s1
8.2
F
Control (matched sibling)
NA
NA
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11798.s1
7.2
F
Control (matched sibling)
NA
NA
32724138
32731293
7156
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11972.s1
5.2
F
Control (matched sibling)
NA
NA
31747616
31761209
13594
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11972.s1
5.2
F
Control (matched sibling)
NA
NA
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12060.s1
10.6
F
Control (matched sibling)
NA
NA
32178735
32181767
3033
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12120.s1
7.8
F
Control (matched sibling)
NA
NA
31747616
31761209
13594
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12303.s1
5.8
F
Control (matched sibling)
NA
NA
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12521.s1
9.2
M
Control (matched sibling)
NA
NA
31747616
31761209
13594
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12523.s1
4
F
Control (matched sibling)
NA
NA
31848581
31910068
61488
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12540.s1
4.5
F
Control (matched sibling)
NA
NA
31899488
31908092
8605
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12565.s1
8.6
M
Control (matched sibling)
NA
NA
31774039
31828359
54321
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12645.s1
11.3
M
Control (matched sibling)
NA
NA
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12701.s1
10.4
M
Control (matched sibling)
NA
NA
32724138
32731293
7156
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12782.s1
12.9
F
Control (matched sibling)
NA
NA
31850394
31910068
59675
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12794.s1
6.3
M
Control (matched sibling)
NA
NA
31747616
31761209
13594
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12796.s1
6.8
F
Control (matched sibling)
NA
NA
31848581
31910068
61488
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12977.s1
5.3
M
Control (matched sibling)
NA
NA
31747616
31761209
13594
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13083.s1
9.8
F
Control (matched sibling)
NA
NA
30848625
30972899
124275
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC03033
Not available
Unknown
celestino-soper_11_ASD_discovery_cases-11149
Unknown
Simplex
NA
celestino-soper_11_ASD_discovery_cases-11197
aCGH (Agilent 4x180K or 8x60K)
De novo
Simplex
NA
celestino-soper_11_ASD_discovery_cases-11303
aCGH (Agilent SurePrint G3), aCGH (Agilent 4x180K or 8x60K)
De novo
Simplex
NA
celestino-soper_11_ASD_discovery_cases-11413
Unknown
Simplex
NA
celestino-soper_11_ASD_discovery_cases-11469
aCGH (Agilent 4x180K or 8x60K)
De novo
Simplex
NA
celestino-soper_11_ASD_discovery_cases-11524
Unknown
Simplex
NA
celestino-soper_11_ASD_discovery_cases-11550
aCGH (Agilent 4x180K or 8x60K)
De novo
Simplex
NA
celestino-soper_11_ASD_discovery_cases-11577
Unknown
Simplex
NA
davis_09_ASD_discovery_cases-AU021903
Unknown
Unknown
Unknown
DDX11
davis_09_ASD_discovery_cases-AU1334302
Unknown
Multiplex
Unknown
DDX11
engchuan_15_ASD_discovery_cases-case5300_3
Unknown
LINC02422,RPL12P32
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002427
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
DNM1L,YARS2,PKP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005146
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
PKP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005206
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-494P,BICD1,FGD4
krumm_15_ASD_discovery_cases-case12158.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
IPO8
krumm_15_ASD_discovery_cases-case13136.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
TSPAN11
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
morrow_08_ASD_discovery_cases-case8301
Paternal
NA
NA
3' end of FAM60A
sanders_11_ASD_discovery_cases-11094.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11111.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11121.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-11144.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-11161.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-11225.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
LINC02422
sanders_11_ASD_discovery_cases-11246.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-11247.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-11363.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11421.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11469.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-11472.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-11495.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-11510.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-11530.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-11555.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
LINC02422
sanders_11_ASD_discovery_cases-11566.p1
Maternal
Simplex (trio)
NA
LINC02422
sanders_11_ASD_discovery_cases-11619.p1
Paternal
Simplex (trio)
NA
LINC02422
sanders_11_ASD_discovery_cases-11711.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11855.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DNM1L,YARS2
sanders_11_ASD_discovery_cases-11863.p1
Maternal
Simplex (quad-proband matched)
Not segregated
BICD1
sanders_11_ASD_discovery_cases-11881.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-11922.p1
Both parents
Simplex (quad-proband matched)
Not segregated
DNM1L,YARS2
sanders_11_ASD_discovery_cases-11972.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-12001.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-12033.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DNM1L
sanders_11_ASD_discovery_cases-12050.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12101.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-12158.p1
Maternal
Simplex (trio)
NA
IPO8
sanders_11_ASD_discovery_cases-12286.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12303.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-12392.p1
Both parents
Simplex (trio)
NA
DNM1L,YARS2
sanders_11_ASD_discovery_cases-12395.p1
Both parents
Simplex (trio)
NA
DNM1L,YARS2
sanders_11_ASD_discovery_cases-12523.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-12645.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-12648.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DNM1L,YARS2
sanders_11_ASD_discovery_cases-12787.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-12796.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-12984.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-13018.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02422
sanders_11_ASD_discovery_cases-13077.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13136.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TSPAN11
sanders_11_ASD_discovery_cases-13146.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036006450_
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900560_900560
Unknown
kanduri_15_ASD_discovery_controls-control_split1592
Unknown
Intergenic CNV: nearest genes, DDX11(dist=99377),FAM60A(dist=26613)
kanduri_15_ASD_discovery_controls-control_split1781
Unknown
Intergenic CNV: nearest genes, DDX11(dist=149084),FAM60A(dist=23941)
kanduri_15_ASD_discovery_controls-control_split200
Unknown
Intergenic CNV: nearest genes, DDX11(dist=127369),FAM60A(dist=26613)
kanduri_15_ASD_discovery_controls-control_split494
Unknown
Intergenic CNV: nearest genes, H3F3C(dist=107247),KIAA1551(dist=58518)
nord_11_ASD_discovery_controls-04C26509
0 genes
poultney_13_ASD_discovery_controls-control05C39172A
Unknown
DDX11
sanders_11_ASD_discovery_controls-11012.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11074.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11106.s1
Paternal
Simplex (quad)
NA
LINC02422
sanders_11_ASD_discovery_controls-11121.s1
Unknown
Simplex (quad)
NA
LINC02422
sanders_11_ASD_discovery_controls-11144.s1
Maternal
Simplex (quad)
NA
LINC02422
sanders_11_ASD_discovery_controls-11289.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11469.s1
Paternal
Simplex (quad)
NA
LINC02422
sanders_11_ASD_discovery_controls-11472.s1
Maternal
Simplex (quad)
NA
LINC02422
sanders_11_ASD_discovery_controls-11502.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11627.s1
Maternal
Simplex (quad)
NA
LINC02422
sanders_11_ASD_discovery_controls-11798.s1
Both parents
Simplex (quad)
NA
DNM1L,YARS2
sanders_11_ASD_discovery_controls-11972.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11972.s1
Maternal
Simplex (quad)
NA
LINC02422
sanders_11_ASD_discovery_controls-12060.s1
Paternal
Simplex (quad)
NA
BICD1
sanders_11_ASD_discovery_controls-12120.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12303.s1
Maternal
Simplex (quad)
NA
LINC02422
sanders_11_ASD_discovery_controls-12521.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12523.s1
Paternal
Simplex (quad)
NA
LINC02422
sanders_11_ASD_discovery_controls-12540.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12565.s1
Paternal
Simplex (quad)
NA
H3F3C,RNU6-1069P
sanders_11_ASD_discovery_controls-12645.s1
Maternal
Simplex (quad)
NA
LINC02422
sanders_11_ASD_discovery_controls-12674.s1
Paternal
Simplex (quad)
NA
LINC02422
sanders_11_ASD_discovery_controls-12701.s1
Paternal
Simplex (quad)
NA
DNM1L,YARS2
sanders_11_ASD_discovery_controls-12782.s1
Paternal
Simplex (quad)
NA
LINC02422
sanders_11_ASD_discovery_controls-12794.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12796.s1
Paternal
Simplex (quad)
NA
LINC02422
sanders_11_ASD_discovery_controls-12977.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13083.s1
Maternal
Simplex (quad)
NA
PPIAP44,LINC00941,TSPAN11
No Animal Model Data Available