4q35.1CNV Type: Deletion-Duplication
Largest CNV size: 330001 bp
Statistics Box:
Number of Reports: 14
Number of Reports: 14
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
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
577162
0
8
8
fan_18_DD/ID_discovery_cases
Individuals from unrelated families presenting with de novo 14q32.2 deletions affecting the CCNK gene
3
All three cases presented with severe to extremely severe developmental delay/intellectual disability (DD/ID) with profounds delays in language and social communication; two cases also presented with autistic behaviors
Range, 4-9 yrs.
33.33% Male
611301
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
4520574
1
2
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
134022
0
4
4
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
640607
0
2
2
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
265000
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
330001
1
1
2
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
300000
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
233973
0
2
2
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
19803
1
0
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
327738
1
3
4
qiao_12_ASD/ID_discovery_cases
Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
52
ASD and/or ID (intellectual disability)
NA
NA
200901
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
142416
11
3
14
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
48946
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
319112
0
1
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
59271
1
1
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
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
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
640607
0
1
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
46614
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
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)
327738
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.
31918
5
3
8
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
48946
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
fan_18_DD/ID_discovery_cases
Chinese
Array SNP, solid phase hybridization
Affymetrix CytoScan HD, Illumina HumanCytoSNP-12
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)
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
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
qiao_12_ASD/ID_discovery_cases
Canadian
Array SNP
Affymetrix 2.7M
Affymetrix ChAS v.1.1
QMPSF
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
qPCR
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
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
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-case13049_583
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
184259966
184299109
39144
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14258_3810
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
185492643
185789158
296516
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14258_3810
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
184677250
185254412
577163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14298_4190
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
186010756
186200855
190100
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5273_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
184149402
184207488
58087
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5347_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
185321079
185479074
157996
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5347_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
183662077
183896049
233973
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5521_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
186062188
186132982
70795
GRCh38
Duplication
No
fan_18_DD/ID_discovery_cases-subject1
4 yrs.
M
Developmental delay/intellectual disability and autistic features
Developmental milestones: moderately delayed gross motor skill development, severely delayed fine motor skill development, extremely severe delays in language development and social communication development, severe delays in adaptivity. Language and communication evaluation: absent speech (language ability equivalent to 6 months). Behavioral/psychiatric evaluation: autistic behaviors. Dysmorphic features: hypertelorism, thin eyebrows, dysmorphic ears, high anterior hairline, palpebral fissures, broad nasal bridge and tip, thick nasal alae, long philtrum, thin upper lip vermillion, narrow jaw. Growth parameters: height normal, weight 90th-97th %ile, head circumference +1 SD ~ +2 SD.
Severe intellectual disability
185849970
186461271
611302
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001299
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
181579626
186100199
4520574
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002072
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
182990639
186013514
3022876
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005364
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
182915444
183265722
350279
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11025.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
186076619
186210641
134023
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12026.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
183701696
183712644
10949
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12797.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
186076619
186210641
134023
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13842.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
186076619
186210641
134023
GRCh38
Duplication
Yes
larson_17_ASD_discovery_cases-case52
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
182872121
183512728
640608
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case7
N/A
M
ASD and psychosis
Male, borderline IQ, psychosis onset teens, diagnosis of affective psychosis NOS, family history depression, psychosis (not FDRs). CNV not reported in DGV.
Borderline IQ
182872121
183512728
640608
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown168
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
184088646
184353508
264863
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0166-003
NA
M
ASD
NA
NA
185491697
185821697
330001
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0266-003
NA
M
ASD
NA
NA
182169698
182220698
51001
GRCh38
Deletion
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530929
F
Autism
Atypical behavior (HP:0000708), autism (HP:0000717)
185079913
185379912
300000
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5347_3
NA
M
Autism
Language delay, no epilepsy, no dysmorphic features
Average IQ
185321079
185479074
157996
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5347_3
NA
M
Autism
Language delay, no epilepsy, no dysmorphic features
Average IQ
183662077
183896049
233973
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case05HI4328A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1444301; NDAR ID NDAR_INVVH420DX3)
185247355
185267157
19803
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case154624L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
185783357
185805743
22387
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case36773
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
186649465
186977202
327738
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case68257
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
183318337
183375766
57430
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case72296
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
185310885
185366525
55641
Unknown
Duplication
No
qiao_12_ASD_discovery_cases-case10-18A
NA
NA
ASD and/or ID
NA
NA
187169832
187370733
200901
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11044.p1
5.5
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ 112
185479038
185498735
19698
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11202.p1
11.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
184972832
184986843
14012
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11265.p1
14.3
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 98; verbal IQ, 120
181681787
181700405
18619
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11333.p1
9.8
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
185479038
185498735
19698
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11446.p1
8.3
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
184237152
184246555
9404
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11622.p1
9.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
185479038
185498735
19698
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11851.p1
8.8
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 92; verbal IQ, 121
185479038
185500570
21533
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12026.p1
6.6
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 36
183699486
183794439
94954
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-12072.p1
15.6
F
Autism
NA
Full-scale IQ, 139; non-verbal IQ, 116; verbal IQ, 167
184972832
184986843
14012
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12081.p1
12.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 87; verbal IQ, 92
181957597
182100013
142417
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12435.p1
11.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 51; verbal IQ, 40
185479038
185498735
19698
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12622.p1
15.1
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 97; verbal IQ, 70
185470169
185498735
28567
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
183823850
183836284
12435
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13171.p1
7.9
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 59; verbal IQ, 45
185479038
185498735
19698
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case212
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
185339658
185388603
48946
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
bacchelli_20_ASD_discovery_controls-control20071
N/A
M
Control
Control
185294982
185614093
319112
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB585116_1007872290
N/A
N/A
Control
No previous psychiatric history
182846860
182902820
55961
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901058_901058
N/A
N/A
Control
No previous psychiatric history
184687950
184747221
59272
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11005.s1
NA
M
Control
NA
NA
184612812
184659425
46614
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11250.s1
12.7
F
Control (matched sibling)
NA
NA
184327113
184338517
11405
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11265.s1
0
F
Control (matched sibling)
NA
NA
181681787
181700405
18619
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11323.s1
6.3
F
Control (matched sibling)
NA
NA
184237152
184246555
9404
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11333.s1
6.9
M
Control (matched sibling)
NA
NA
185479038
185498735
19698
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11557.s1
6.8
M
Control (matched sibling)
NA
NA
184656718
184688636
31919
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12435.s1
9
F
Control (matched sibling)
NA
NA
185479038
185498735
19698
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12462.s1
20.8
F
Control (matched sibling)
NA
NA
182368472
182373817
5346
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13171.s1
11.3
F
Control (matched sibling)
NA
NA
185479038
185498735
19698
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-case13049_583
Unknown
RN7SL28P
engchuan_15_ASD_discovery_cases-case14258_3810
Unknown
PDLIM3,SORBS2
engchuan_15_ASD_discovery_cases-case14258_3810
Unknown
SLED1,MIR3945HG,MIR3945,LINC01093,MIR4455,HELT,SLC25A4,CENPU,LINC02437,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25
engchuan_15_ASD_discovery_cases-case14298_4190
Unknown
RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,TLR3,CYP4V2,FAM149A
engchuan_15_ASD_discovery_cases-case5273_3
Unknown
ENPP6
engchuan_15_ASD_discovery_cases-case5347_3
Unknown
ANKRD37,LRP2BP,UFSP2,C4orf47,SNX25,CCDC110
engchuan_15_ASD_discovery_cases-case5347_3
Unknown
RNU6-335P,RNU6-1053P,TRAPPC11,STOX2
engchuan_15_ASD_discovery_cases-case5521_3
Unknown
TLR3,FAM149A
fan_18_DD/ID_discovery_cases-subject1
Unknown
Unknown
RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,TLR3,CYP4V2,F11,FAM149A,KLKB1,F11-AS1,SORBS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001299
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP13,CCNHP1,MIR1305,RNU2-34P,RN7SKP67,FAM92A1P2,WWC2-AS2,CLDN24,CDKN2AIP,VTI1BP2,ING2,RNU6-479P,RNU6-335P,RNU6-1053P,RN7SL28P,MYL12BP2,SLED1,MIR3945HG,MIR3945,LINC01093,MIR4455,HELT,SLC25A4,ANKRD37,RNU4-64P,TEMN3-AS1,DCTD,CLDN22,RWDD4,TRAPPC11,LINC02363,LINC02362,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,WWC2,WWC2-AS1,STOX2,ENPP6,IRF2,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,TENM3,SORBS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002072
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FAM92A1P2,WWC2-AS2,CLDN24,CDKN2AIP,VTI1BP2,ING2,RNU6-479P,RNU6-335P,RNU6-1053P,RN7SL28P,MYL12BP2,SLED1,MIR3945HG,MIR3945,LINC01093,MIR4455,HELT,SLC25A4,ANKRD37,CLDN22,RWDD4,TRAPPC11,LINC02363,LINC02362,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,WWC2,WWC2-AS1,STOX2,ENPP6,IRF2,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,SORBS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005364
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
FAM92A1P2,WWC2-AS2,DCTD,WWC2,WWC2-AS1
krumm_15_ASD_discovery_cases-case11025.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
RPSAP70,ORAOV1P1,FLJ38576,TLR3,CYP4V2,FAM149A,KLKB1
krumm_15_ASD_discovery_cases-case12026.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RNU6-1053P,TRAPPC11
krumm_15_ASD_discovery_cases-case12797.p1
1M-Duov3
Paternal
Simplex
Segregated
RPSAP70,ORAOV1P1,FLJ38576,TLR3,CYP4V2,FAM149A,KLKB1
krumm_15_ASD_discovery_cases-case13842.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
RPSAP70,ORAOV1P1,FLJ38576,TLR3,CYP4V2,FAM149A,KLKB1
larson_17_ASD_discovery_cases-case52
Unknown
Unknown
FAM92A1P2,WWC2-AS2,CLDN24,CDKN2AIP,VTI1BP2,ING2,DCTD,CLDN22,WWC2,WWC2-AS1
larson_17_ASD_discovery_cases-case7
Unknown
Unknown
FAM92A1P2,WWC2-AS2,CLDN24,CDKN2AIP,VTI1BP2,ING2,DCTD,CLDN22,WWC2,WWC2-AS1
maini_18_ASD/DD/ID_discovery_cases-case_unknown168
Unknown
Unknown
Unknown
RN7SL28P,MYL12BP2,LINC02363,ENPP6
marshall_08_ASD_discovery_cases-SK0166-003
qPCR, qmPCR
Unknown
NA
NA
PDLIM3,SORBS2
marshall_08_ASD_discovery_cases-SK0266-003
qPCR, qmPCR
Unknown
NA
NA
TENM3
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530929
Unknown
SLC25A4,CFAP97,LRP2BP,SNX25,LINC02436
pinto_10_ASD_discovery_cases-case5347_3
Agilent1M
maternal
Simplex
NA
ANKRD37,LRP2BP,UFSP2,C4orf47,SNX25,CCDC110
pinto_10_ASD_discovery_cases-case5347_3
Agilent1M
maternal
Simplex
NA
RNU6-335P,RNU6-1053P,TRAPPC11,STOX2
poultney_13_ASD_discovery_cases-case05HI4328A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SNX25
prasad_12_ASD_discovery_cases-case154624L
Unknown
Unknown
Unknown
CASP3
prasad_12_ASD_discovery_cases-case36773
Unknown
Unknown
Unknown
SORBS2,PDLIM3
prasad_12_ASD_discovery_cases-case68257
Unknown
Unknown
Unknown
MIR1305
prasad_12_ASD_discovery_cases-case72296
Unknown
Unknown
Unknown
ENPP6
qiao_12_ASD_discovery_cases-case10-18A
QMPSF
Paternal
Unknown
Unknown
TLR3,FAM149A,CYP4V2
sanders_11_ASD_discovery_cases-11044.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11202.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11265.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11333.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11446.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11622.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11851.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12026.p1
qPCR
De Novo
Simplex (trio)
NA
RNU6-1053P,TRAPPC11
sanders_11_ASD_discovery_cases-12072.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12081.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12435.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12622.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
CCDC110
sanders_11_ASD_discovery_cases-12701.p1
Unknown
Simplex (quad-proband matched)
Segregated
STOX2
sanders_11_ASD_discovery_cases-13171.p1
Paternal
Simplex (quad-proband matched)
Not segregated
yin_16_ASD_discovery_cases-case212
Unknown
Unknown
Unknown
LRP2BP,SNX25
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control20071
Unknown
ANKRD37,LRP2BP,UFSP2,C4orf47,PDLIM3,SNX25,CCDC110,SORBS2
engchuan_15_ASD_discovery_controls-controlB585116_1007872290
Unknown
DCTD
engchuan_15_ASD_discovery_controls-controlHABC_901058_901058
Unknown
CENPU,PRIMPOL
levy_11_ASD_discovery_controls-11005.s1
Maternal
Simplex
NA
LINC02365,CASP3,PRIMPOL
sanders_11_ASD_discovery_controls-11250.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11265.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11323.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11333.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11557.s1
Paternal
Simplex (quad)
NA
PRIMPOL
sanders_11_ASD_discovery_controls-12435.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12462.s1
Paternal
Simplex (quad)
NA
TENM3
sanders_11_ASD_discovery_controls-13171.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available