12q21.1CNV Type: Deletion-Duplication
Largest CNV size: 121570 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
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
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
543018
1
0
1
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
147548
0
1
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
136993
9
1
10
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
50403
1
0
1
li_18_ASD_discovery_cases
Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
13
Diagnosis of ASD made according to DSM-IV
Mean age, 4.56 0.97 years
92.31% Male
130083
0
1
1
mosrati_12_ASD/MR_discovery_cases
Affected siblings from a consanguineous Tunisian family with moderate to profound congenital hearing loss associated with mental retardation and autistic behavior.
3
Congenital hearing loss (3/3), mental retardation (2/3), and autistic traits (2/3)
Range, 22-31 yrs.
66.67% Male
2013624
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
11669
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
114920
3
0
3
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)
138174
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
80967
6
0
6
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
121570
16
2
18
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
614981
8
2
10
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
156743
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
102991
0
2
2
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
0
0
0
0
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)
80967
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.
43952
9
1
10
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
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
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
li_18_ASD_discovery_cases
Chinese
Low-coverage WGS
Illumina HiSeq 2000 or 2500 analyzers
PSCC
None
mosrati_12_ASD/MR_discovery_cases
Tunisian
Solid phase hybridization
Illumina HumanCyto12v2.0 BeadChip
QuantiSNP, PennCNV, VanillaICE
BeadStudio V3.3
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
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
annunziata_21_ASD_discovery_cases-caseIB209
NA
M
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
71709035
72252052
543018
GRCh38
Deletion
Yes
davis_09_ASD_discovery_cases-AU005214
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
70411552
70559100
147548
Unknown
Duplication
No
engchuan_15_ASD_discovery_cases-case14398_5070
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73576272
73625419
49148
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2165_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73401187
73431780
30594
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3134_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73913760
74024013
110254
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3211_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73913760
74024013
110254
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4293_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72834424
72971417
136994
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4427_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73913760
74024013
110254
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5211_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71763642
71818892
55251
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5255_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73201615
73280982
79368
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5447_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73909094
74024013
114920
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6102_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72970060
73011263
41204
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU022804
Autism
73093822
73144224
50403
Unknown
Deletion
No
li_18_ASD_discovery_cases-case5101
N/A
M
ASD
Diagnosis of ASD made according to DSM-IV
71781933
71912016
130084
GRCh38
Duplication
No
mosrati_12_ASD/MR_discovery_cases-caseV5
26 yrs.
M
Autistic traits
Behavioral and psychiatric evaluation: autistic traits reminiscent of Asperger syndrome. Language and communication evaluation: no oral speech; able to have coherent hand-sign conservation with mother and unaffected brother. Visual and auditory evaluation: moderate hearing loss. Family history: consanguineous parents; brother with autistic traits, mental retardation, and hearing loss; sister with mental retardation and hearing loss (no autistic traits).
No mental retardation
71853644
73867268
2013624
Unknown
Deletion
No
nord_11_ASD_discovery_cases-204-1
ASD
73336517
73348185
11669
Unknown
Deletion
No
pinto_10_ASD_discovery_cases-case5211_3
NA
F
ASD
NA
NA
71763642
71818892
55251
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5255_3
NA
M
ASD
NA
NA
73201615
73280982
79368
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5447_3
NA
M
ASD
NA
NA
73909094
74024013
114920
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case03HI2580A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0924301; NDAR ID NDAR_INVCE056PE7)
71893220
72031393
138174
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case100580L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
72082502
72103016
20515
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case45554
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
72082502
72103016
20515
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60666L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
72082502
72103016
20515
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case66842
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
72082502
72103016
20515
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case88062L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
70443011
70473518
30508
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case94078
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
71880329
71961295
80967
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11129.p1
4.7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
72887686
72891001
3316
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11194.p1
5.3
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 88; verbal IQ, 98
72561465
72574712
13248
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11474.p1
14.3
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 112; verbal IQ, 120
73401187
73422813
21627
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11599.p1
6.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 99
73401187
73422813
21627
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11794.p1
8.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 33
71566549
71568889
2341
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11894.p1
5.4
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 125
71268509
71278999
10491
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11996.p1
10
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
74660014
74666052
6039
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
73597862
73604009
6148
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
71566549
71568889
2341
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12189.p1
8.8
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
73913760
74035330
121571
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12260.p1
5.3
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
71566549
71568889
2341
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12617.p1
10.8
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 112; verbal IQ, 106
71469498
71470960
1463
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12637.p1
7.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 96
71469498
71470960
1463
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
71563188
71568889
5702
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12691.p1
10.9
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
73011263
73055215
43953
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12930.p1
12.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 57
71566497
71570829
4333
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13076.p1
6.7
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
72947714
72950807
3094
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13169.p1
13.4
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 62; verbal IQ, 37
71469498
71470960
1463
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-control110036024537_
N/A
N/A
Control
No previous psychiatric history
72737035
72770022
32988
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB237493_1007841091
N/A
N/A
Control
No previous psychiatric history
73544381
73701774
157394
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB312630_0067942574
N/A
N/A
Control
No previous psychiatric history
73909094
74024013
114920
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB482193_1007853972
N/A
N/A
Control
No previous psychiatric history
72834424
72971417
136994
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB490991_1007871678
N/A
N/A
Control
No previous psychiatric history
72596414
73211395
614982
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB852766_1007854725
N/A
N/A
Control
No previous psychiatric history
73950689
74089193
138505
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB860843_1007875251
N/A
N/A
Control
No previous psychiatric history
73491161
73658156
166996
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900389_900389
N/A
N/A
Control
No previous psychiatric history
73550690
73604009
53320
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900399_900399
N/A
N/A
Control
No previous psychiatric history
73913760
74024013
110254
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900943_900943
N/A
N/A
Control
No previous psychiatric history
72596414
73201615
605202
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split902
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
74394040
74550782
156743
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control11946.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
71125333
71138230
12898
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14163.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
71782030
71885021
102992
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11391.s1
18.1
M
Control (matched sibling)
NA
NA
72561465
72574712
13248
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11474.s1
19
M
Control (matched sibling)
NA
NA
73389340
73422813
33474
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11599.s1
4.3
M
Control (matched sibling)
NA
NA
73401187
73422813
21627
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11977.s1
13.3
F
Control (matched sibling)
NA
NA
73597862
73604009
6148
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12076.s1
6.2
M
Control (matched sibling)
NA
NA
73597862
73604009
6148
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12661.s1
11.2
F
Control (matched sibling)
NA
NA
71563188
71568889
5702
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12691.s1
23.8
M
Control (matched sibling)
NA
NA
73011263
73055215
43953
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12748.s1
4.2
M
Control (matched sibling)
NA
NA
74711499
74725737
14239
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12785.s1
16.8
F
Control (matched sibling)
NA
NA
73597862
73604009
6148
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13169.s1
16
M
Control (matched sibling)
NA
NA
71469498
71470960
1463
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
annunziata_21_ASD_discovery_cases-caseIB209
qPCR, FISH
Maternal
TRHDE,TBC1D15,TPH2,TRHDE-AS1,MRS2P2,RAB21
davis_09_ASD_discovery_cases-AU005214
Unknown
Unknown
Unknown
RAB21, TBC1D15
engchuan_15_ASD_discovery_cases-case14398_5070
Unknown
engchuan_15_ASD_discovery_cases-case2165_1
Unknown
engchuan_15_ASD_discovery_cases-case3134_4
Unknown
engchuan_15_ASD_discovery_cases-case3211_3
Unknown
engchuan_15_ASD_discovery_cases-case4293_1
Unknown
engchuan_15_ASD_discovery_cases-case4427_1
Unknown
engchuan_15_ASD_discovery_cases-case5211_3
Unknown
RAB21
engchuan_15_ASD_discovery_cases-case5255_3
Unknown
LINC02444
engchuan_15_ASD_discovery_cases-case5447_3
Unknown
engchuan_15_ASD_discovery_cases-case6102_3
Unknown
gai_11_ASD_replication_cases-AU022804
Inherited
0 genes
li_18_ASD_discovery_cases-case5101
Unknown
Simplex
Unknown
RAB21,TBC1D15
mosrati_12_ASD/MR_discovery_cases-caseV5
Unknown
Multiplex
Unknown
ATXN7L3B,KCNC2
nord_11_ASD_discovery_cases-204-1
Maternal
0 genes
pinto_10_ASD_discovery_cases-case5211_3
Agilent1M
paternal
NA
NA
RAB21
pinto_10_ASD_discovery_cases-case5255_3
Agilent1M
paternal
NA
NA
LINC02444
pinto_10_ASD_discovery_cases-case5447_3
Agilent1M
maternal
NA
NA
poultney_13_ASD_discovery_cases-case03HI2580A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TBC1D15,TPH2
prasad_12_ASD_discovery_cases-case100580L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case45554
Unknown
Multiplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60666L
Unknown
Simplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case66842
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case88062L
Unknown
Unknown
Unknown
RAB21
prasad_12_ASD_discovery_cases-case94078
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11129.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11194.p1
Unknown
Simplex (quad-proband matched)
Segregated
TRHDE
sanders_11_ASD_discovery_cases-11474.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11599.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11794.p1
Maternal
Simplex (quad-proband matched)
Segregated
LGR5
sanders_11_ASD_discovery_cases-11894.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TSPAN8
sanders_11_ASD_discovery_cases-11996.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12076.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12184.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LGR5
sanders_11_ASD_discovery_cases-12189.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12260.p1
Unknown
Simplex (trio)
NA
LGR5
sanders_11_ASD_discovery_cases-12617.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LGR5
sanders_11_ASD_discovery_cases-12637.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LGR5
sanders_11_ASD_discovery_cases-12661.p1
Both parents
Simplex (quad-proband matched)
Not segregated
LGR5
sanders_11_ASD_discovery_cases-12691.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12930.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LGR5
sanders_11_ASD_discovery_cases-13076.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13169.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LGR5
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036024537_
Unknown
engchuan_15_ASD_discovery_controls-controlB237493_1007841091
Unknown
RNU6-1012P
engchuan_15_ASD_discovery_controls-controlB312630_0067942574
Unknown
engchuan_15_ASD_discovery_controls-controlB482193_1007853972
Unknown
engchuan_15_ASD_discovery_controls-controlB490991_1007871678
Unknown
CHCHD3P2,LINC02444,TRHDE
engchuan_15_ASD_discovery_controls-controlB852766_1007854725
Unknown
LINC02394
engchuan_15_ASD_discovery_controls-controlB860843_1007875251
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900389_900389
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900399_900399
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900943_900943
Unknown
CHCHD3P2,LINC02444,TRHDE
kanduri_15_ASD_discovery_controls-control_split902
Unknown
LOC100507377 (non-coding RNA, exonic)
krumm_15_ASD_discovery_controls-control11946.s1
Illumina 1MDuo
Paternal
TSPAN8
krumm_15_ASD_discovery_controls-control14163.s1
Omni2.5-4v1
Maternal
RAB21,TBC1D15
sanders_11_ASD_discovery_controls-11391.s1
Unknown
Simplex (quad)
NA
TRHDE
sanders_11_ASD_discovery_controls-11474.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11599.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11977.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12076.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12661.s1
Both parents
Simplex (quad)
NA
LGR5
sanders_11_ASD_discovery_controls-12691.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12748.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12785.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13169.s1
Unknown
Simplex (quad)
NA
LGR5
No Animal Model Data Available