4q28.1CNV Type: Deletion-Duplication
Largest CNV size: 649211 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.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion-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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
378293
8
1
9
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
981970
1
1
2
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
2275904
1
0
1
kousoulidou_13_ASD_discovery_cases
Cypriot patients with ASD or autistic features
50
Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
Range, 3-18 yrs.
90% Male
132000
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
378294
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
367683
2
2
4
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
415963
1
1
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
649211
3
0
3
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
44105
1
0
1
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
363000
1
0
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
78774
0
1
1
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
378293
3
2
5
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
11339
1
0
1
kousoulidou_13_ASD_discovery_controls
Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
130
Controls
N/A
N/A
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)
367683
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.
160952
1
2
3
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
44105
N/A
N/A
N/A
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
78774
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
qPCR, Taqman assay
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
kousoulidou_13_ASD_discovery_cases
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
qPCR
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)
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
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
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
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
kousoulidou_13_ASD_discovery_controls
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
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
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
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
engchuan_15_ASD_discovery_cases-case14164_2680
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
124359697
124403802
44106
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14251_3750
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
124359697
124403802
44106
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14313_4300
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
124352338
124403802
51465
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16093_1571132001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
125750625
125798311
47687
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1968_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
124359697
124403802
44106
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3156_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
126675914
126746789
70876
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3606_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
125817678
125910967
93290
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5139_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
124091835
124470128
378294
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8532_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
125377990
125453744
75755
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case527-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
123141991
124123961
981971
GRCh38
Duplication
Yes
gazzellone_14_ASD_discovery_cases-case622-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
126830327
126856063
25737
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005065
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
124055204
126331108
2275905
GRCh38
Deletion
Yes
kousoulidou_13_ASD_discovery_cases-patient11
N/A
M
ID and autistic features
Autistic features. Poor concentration. EEG: normal. Family history: affected father with autistic features.
Intellectual disability (mild), learning difficulties
122979186
123111346
132161
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5139_3
NA
F
ASD
NA
NA
124091835
124470128
378294
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case129914
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
126959553
127011262
51710
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case143189
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
124656940
124680991
24052
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case64714L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
126515534
126528308
12775
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case82369L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
125241306
125608988
367683
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_305
10 yrs.
M
Intellectual disability and ADHD
ADHD. Incomplete parental clinical history.
Mild intellectual disability
125365287
125587627
222341
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_515
6 yrs.
M
Intellectual disability
Additional clinical information N/A
Intellectual disability
125391972
125807934
415963
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11264.p1
10.7
F
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 88; verbal IQ 80
125248997
125255488
6492
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12754.p1
7.9
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 125; verbal IQ, 115
126222580
126871791
649212
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13301.p1
13.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124
124385942
124715271
329330
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case8-14251-3750
N/A
M
ASD
N/A
N/A
124359697
124403802
44106
GRCh38
Deletion
No
xu_16_ASD/DD/ID_discovery_cases-case39
N/A
N/A
ASD
Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
125644148
126007909
363762
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case208
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
124481859
124560632
78774
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
engchuan_15_ASD_discovery_controls-control110036019727_
N/A
N/A
Control
No previous psychiatric history
124030349
124187929
157581
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB322838_1007872284
N/A
N/A
Control
No previous psychiatric history
125753917
125806343
52427
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB382816_1007872257
N/A
N/A
Control
No previous psychiatric history
123138494
123220316
81823
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB391985_1007840230
N/A
N/A
Control
No previous psychiatric history
124091835
124470128
378294
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB630497_1007872229
N/A
N/A
Control
No previous psychiatric history
125824516
125878499
53984
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1532
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
125831214
125842552
11339
Unknown
Deletion
No
sanders_11_ASD_discovery_controls-11462.s1
6.5
M
Control (matched sibling)
NA
NA
125227473
125238450
10978
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12083.s1
5.5
F
Control (matched sibling)
NA
NA
125081512
125167332
85821
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12957.s1
13.3
F
Control (matched sibling)
NA
NA
124045370
124206322
160953
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case14164_2680
Unknown
engchuan_15_ASD_discovery_cases-case14251_3750
Unknown
engchuan_15_ASD_discovery_cases-case14313_4300
Unknown
engchuan_15_ASD_discovery_cases-case16093_1571132001
Unknown
engchuan_15_ASD_discovery_cases-case1968_301
Unknown
engchuan_15_ASD_discovery_cases-case3156_3
Unknown
engchuan_15_ASD_discovery_cases-case3606_3
Unknown
engchuan_15_ASD_discovery_cases-case5139_3
Unknown
TECRP2
engchuan_15_ASD_discovery_cases-case8532_201
Unknown
FAT4
gazzellone_14_ASD_discovery_cases-case527-3
qPCR or Taqman assay
De novo
Unknown
Possibly segregated
SPRY1,RPL21P50,PPIAP76,LINC02435,SPATA5,LINC01091
gazzellone_14_ASD_discovery_cases-case622-3
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005065
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PPIAP76,TECRP2,MIR2054,TMEM248P1,LINC02379,ANKRD50,NUP58P1,LINC02516,FAT4
kousoulidou_13_ASD_discovery_cases-patient11
qPCR
Maternal
Unknown
Unknown
SPATA5
pinto_10_ASD_discovery_cases-case5139_3
Agilent1M
paternal
NA
NA
TECRP2
prasad_12_ASD_discovery_cases-case129914
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case143189
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case64714L
Unknown
Unknown
Unknown
FAT4
prasad_12_ASD_discovery_cases-case82369L
Unknown
Unknown
Unknown
0 genes
quintela_17_DD/ID_discovery_cases-caseID_305
Maternal
Unknown
MIR2054,FAT4
quintela_17_DD/ID_discovery_cases-caseID_515
Unknown
Unknown
MIR2054,TMEM248P1,NUP58P1,FAT4
sanders_11_ASD_discovery_cases-11264.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12754.p1
Paternal
Simplex (trio)
NA
RBM48P1
sanders_11_ASD_discovery_cases-13301.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TECRP2,ANKRD50,LINC02516
walker_13_ASD_discovery_cases-case8-14251-3750
Unknown
Simplex
Unknown
xu_16_ASD/DD/ID_discovery_cases-case39
Paternal
TMEM248P1,NUP58P1
yin_16_ASD_discovery_cases-case208
Unknown
Unknown
Unknown
LINC02516
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036019727_
Unknown
PPIAP76
engchuan_15_ASD_discovery_controls-controlB322838_1007872284
Unknown
engchuan_15_ASD_discovery_controls-controlB382816_1007872257
Unknown
SPATA5
engchuan_15_ASD_discovery_controls-controlB391985_1007840230
Unknown
TECRP2
engchuan_15_ASD_discovery_controls-controlB630497_1007872229
Unknown
kanduri_15_ASD_discovery_controls-control_split1532
Unknown
Intergenic CNV: nearest genes, ANKRD50(dist=197327),FAT4(dist=395015)
sanders_11_ASD_discovery_controls-11462.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12083.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12957.s1
Maternal
Simplex (quad)
NA
PPIAP76
No Animal Model Data Available