1q23.1CNV Type: Deletion-Duplication
Largest CNV size: 30476 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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
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_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
8951
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
1750
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
548932
2
2
4
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
60167
0
1
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
794747
1
1
2
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
42791
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
21683
1
0
1
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
411583
2
0
2
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
30476
8
4
12
woodbury-smith_14_ASD_discovery_cases
Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
19
Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
N/A
N/A
27644
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
136482
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
6904
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
122977
0
2
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
2454
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
2908
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
32086
1
0
1
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)
21683
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.
29085
5
2
7
woodbury-smith_14_ASD_discovery_controls
Platform-matched controls from the KORA and COGEND datasets
2988
Control
N/A
N/A
0
0
0
0
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
136482
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
qPCR
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
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
woodbury-smith_14_ASD_discovery_cases
US and Canada
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
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
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
woodbury-smith_14_ASD_discovery_controls
Predominantly European
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_cases-caseAU1909304
N/A
M
ASD
Case from MSSNG cohort
156931050
156940000
8951
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299931
N/A
M
Developmental delay
Global developmental delay
157133383
157135129
1747
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13038_473
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
156839414
156921818
82405
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13074_873
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
157260479
157385218
124740
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14201_3250
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
157740485
158289417
548933
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8416_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
158338746
158382610
43865
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004746
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
156593261
156653428
60168
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case3016
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
157955804
158750550
794747
Unknown
Duplication
No
kanduri_15_ASD_discovery_cases-case3076
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
158518939
158521392
2454
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case13599.p1
N/A
M
ASD
ASD proband from SSC quad family 13599. SRS score of 79.
Full-scale IQ (FSIQ) score of 65.
156920803
156963594
42792
GRCh38
Duplication
No (not tested)
prasad_12_ASD_discovery_cases-case78391
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
156931559
156953241
21683
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_12
4 yrs.
F
Intellectual disability
Additional clinical information N/A
Intellectual disability
158519755
158931337
411583
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_517
6 yrs.
F
Intellectual disability
Additional clinical information N/A
Intellectual disability
158519853
158923173
403321
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11239.p1
17.3
F
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 109; verbal IQ, 140
158547046
158553881
6836
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11347.p1
15.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 75; verbal IQ, 37
157177319
157195024
17706
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11412.p1
8.2
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 119; verbal IQ, 85
158490185
158520661
30477
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
158547046
158565192
18147
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12041.p1
6.7
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
158547046
158551602
4557
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
158547046
158551602
4557
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12510.p1
7.3
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 47
158547046
158551602
4557
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12548.p1
11.9
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 113; verbal IQ, 76
158547046
158570099
23054
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12641.p1
10.3
F
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 63
158547046
158570099
23054
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
158547046
158551602
4557
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12701.p1
6.7
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
158523936
158527782
3847
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13039.p1
6.3
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
156596619
156601543
4925
GRCh38
Deletion
No
woodbury-smith_14_ASD_discovery_cases-case8
N/A
M
ASD
Family history: broad autism phenotype (BAP)-defined father.
158547352
158574995
27644
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case36
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
157962207
158098688
136482
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_replication_controls-controlSSC05527
N/A
F
control
Control from SSC_phase2 cohort
157037337
157044240
6904
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900302_900302
N/A
N/A
Control
No previous psychiatric history
158547046
158578882
31837
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902681_902681
N/A
N/A
Control
No previous psychiatric history
157267571
157390548
122978
GRCh38
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
158518939
158521392
2454
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control11411.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11411. SRS score of 41.
158353988
158356896
2909
GRCh38
Deletion
No (not tested)
levy_11_ASD_discovery_controls-11411.s1
NA
F
Control
NA
NA
158353073
158385158
32086
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11347.s1
17
M
Control (matched sibling)
NA
NA
157177319
157195024
17706
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11412.s1
10.5
F
Control (matched sibling)
NA
NA
158491576
158520661
29086
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11484.s1
14.4
M
Control (matched sibling)
NA
NA
157177319
157191556
14238
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11540.s1
14.7
F
Control (matched sibling)
NA
NA
158547046
158551602
4557
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11895.s1
4
M
Control (matched sibling)
NA
NA
158523936
158527782
3847
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12041.s1
4.3
M
Control (matched sibling)
NA
NA
158547046
158551602
4557
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12641.s1
7.6
F
Control (matched sibling)
NA
NA
158550415
158570099
19685
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseAU1909304
No validation step reported
Maternal
MIR765,LRRC71,ARHGEF11
digregorio_17_DD/ID_discovery_cases-DECIPHER_299931
qPCR
Unknown
ETV3
engchuan_15_ASD_discovery_cases-case13038_473
Unknown
NTRK1,INSRR,PEAR1,LRRC71
engchuan_15_ASD_discovery_cases-case13074_873
Unknown
engchuan_15_ASD_discovery_cases-case14201_3250
Unknown
MRPS21P2,KIRREL1-IT1,ELL2P1,CD1D,CD1A,HMGN1P5,FCRL2,CD5L,LINC01704,FCRL1,KIRREL1
engchuan_15_ASD_discovery_cases-case8416_201
Unknown
CD1E
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004746
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NAXE,HAPLN2,GPATCH4,BCAN
kanduri_15_ASD_discovery_cases-case3016
Paternal
Unknown
Unknown
CD1A,CD1B,CD1C,CD1D,CD1E,KIRREL,OR10K1,OR10K2,OR10R2,OR10T2,OR10X1,OR10Z1,OR6K2,OR6K3,OR6K6,OR6N1,OR6N2,OR6P1,OR6Y1,SPTA1
kanduri_15_ASD_discovery_cases-case3076
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, OR6Y1(dist=1044),OR6P1(dist=11049)
krumm_13_ASD_discovery_cases-case13599.p1
Maternal
Simplex
Segregated
MIR765,LRRC71,ARHGEF11
prasad_12_ASD_discovery_cases-case78391
Unknown
Unknown
Unknown
OR6K2
quintela_17_DD/ID_discovery_cases-caseID_12
Unknown
Unknown
OR10X1,OR10Z1,OR6K2,OR6K3,OR6K4P,OR6K5P,OR6K6,OR2AQ1P,OR10AA1P,PYHIN5P,OR6Y1,OR6P1,SPTA1,OR6K1P,OR6N1,OR6N2,MNDA,PYHIN1
quintela_17_DD/ID_discovery_cases-caseID_517
Unknown
Unknown
OR10X1,OR10Z1,OR6K2,OR6K3,OR6K4P,OR6K5P,OR6K6,OR2AQ1P,OR10AA1P,PYHIN5P,OR6Y1,OR6P1,SPTA1,OR6K1P,OR6N1,OR6N2,MNDA
sanders_11_ASD_discovery_cases-11239.p1
Paternal
Simplex (quad-proband matched)
Segregated
OR6Y1
sanders_11_ASD_discovery_cases-11347.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11412.p1
Maternal
Simplex (quad-proband matched)
Not segregated
OR10R3P,OR10R1P
sanders_11_ASD_discovery_cases-11506.p1
Paternal
Simplex (trio)
NA
OR6Y1,OR6P1
sanders_11_ASD_discovery_cases-12041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
OR6Y1
sanders_11_ASD_discovery_cases-12102.p1
Paternal
Simplex (trio)
NA
OR6Y1
sanders_11_ASD_discovery_cases-12510.p1
Maternal
Simplex (quad-proband matched)
Not segregated
OR6Y1
sanders_11_ASD_discovery_cases-12548.p1
Maternal
Simplex (quad-proband matched)
Not segregated
OR6Y1,OR6P1
sanders_11_ASD_discovery_cases-12641.p1
Paternal
Simplex (quad-proband matched)
Not segregated
OR6Y1,OR6P1
sanders_11_ASD_discovery_cases-12661.p1
Maternal
Simplex (quad-proband matched)
Not segregated
OR6Y1
sanders_11_ASD_discovery_cases-12701.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13039.p1
Unknown
Simplex (quad-proband matched)
Segregated
GPATCH4
woodbury-smith_14_ASD_discovery_cases-case8
Paternal
Possible multi-generational (CNV transmitted from BAP-defined parent to ASD diagnosed offspring)
Unknown
OR6Y1,OR6P1
yin_16_ASD_discovery_cases-case36
Unknown
Unknown
Unknown
KIRREL1-IT1,KIRREL1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC05527
No validation step reported
Paternal
ARHGEF11
engchuan_15_ASD_discovery_controls-controlHABC_900302_900302
Unknown
OR6Y1,OR6P1
engchuan_15_ASD_discovery_controls-controlHABC_902681_902681
Unknown
kanduri_15_ASD_discovery_controls-control_split1781
Unknown
Intergenic CNV: nearest genes, OR6Y1(dist=1044),OR6P1(dist=11049)
krumm_13_ASD_discovery_controls-control11411.s1
Paternal
Simplex
CD1E
levy_11_ASD_discovery_controls-11411.s1
Paternal
Simplex
NA
CD1E
sanders_11_ASD_discovery_controls-11347.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11412.s1
Maternal
Simplex (quad)
NA
OR10R3P,OR10R1P
sanders_11_ASD_discovery_controls-11484.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11540.s1
Maternal
Simplex (quad)
NA
OR6Y1
sanders_11_ASD_discovery_controls-11895.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12041.s1
Maternal
Simplex (quad)
NA
OR6Y1
sanders_11_ASD_discovery_controls-12641.s1
Paternal
Simplex (quad)
NA
OR6Y1,OR6P1
No Animal Model Data Available