18p11.21CNV Type: Deletion-Duplication
Largest CNV size: 949858 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
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.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Deletion
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
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
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-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
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.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
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
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
300000
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
862201
1
4
5
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
1319191
0
1
1
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
516608
0
2
2
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
278000
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
783254
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
172916
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
949858
0
1
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
692284
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
177000
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
698641
1
1
2
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
1010855
1
2
3
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
697204
1
2
3
reinthaler_14_EP_discovery_cases
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
281
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
N/A
58.72% Male
1228000
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
140740
13
12
25
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
155213
1
1
2
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
0
0
0
0
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
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)
668170
0
1
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)
1010855
0
0
0
reinthaler_14_EP_discovery_controls
Unscreened population controls
1512
Control
N/A
49.93% Male
1228000
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.
168240
13
7
20
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
155213
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
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)
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
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
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)
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
reinthaler_14_EP_discovery_cases
Caucasian
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
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
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
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
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
reinthaler_14_EP_discovery_controls
German
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
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
bremer_11_ASD_discovery_cases-case37
6
F
ASD
Non-syndromic ASD, sporadic case
IQ>70
11935572
12232003
296432
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13138_1553
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11213355
12075556
862202
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20090_1392002
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11359861
11609488
249628
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3435_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11967793
12130395
162603
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3437_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
13779216
13953123
173908
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case9749_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12917704
13207253
289550
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1348304
Autism
13584102
14903292
1319191
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU057403
Autism
14718881
15235488
516608
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU057404
Autism
14718881
15235488
516608
Unknown
Duplication
No
girirajan_13a_ASD_discovery_cases-14196.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
12920001
13200001
280001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004062
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
13298775
14082029
783255
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14196.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
12951854
13124770
172917
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0328-003
NA
M
ASD
NA
NA
13804044
14753901
949858
GRCh38
Duplication
Yes
mosca_16_DCD_discovery_cases-case101703
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
14682916
15375199
692284
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam932Proband10000
N/A
M
ASD
Additional clinical profile info N/A
ID
14076973
14253538
176566
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case3435_003
NA
F
Autism
No dysmorphic signs, weight P90, height P50, head circumference P80
Mild MR
11967793
12130395
162603
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5222_3
NA
M
ASD
NA
NA
14700842
15399482
698641
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case126047
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
13701484
13709978
8495
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case67880
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
11785305
11801837
16533
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case82302
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
13775035
14785889
1010855
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_263
6 yrs.
F
Intellectual disability and epilepsy
Epilepsy, hypotonia, pes planus
Intellectual disability
10913278
11610480
697203
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_524
10 yrs.
M
Intellectual disability
Additional clinical information N/A
Intellectual disability
12915694
13183823
268130
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_83
14 yrs.
F
Intellectual disability
Obesity, delayed puberty
Intellectual disability
12918251
13183318
265068
GRCh38
Duplication
No
reinthaler_14_EP_discovery_cases-caseAVRE08
N/A
M
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
13760291
14988114
1227824
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11000.p1
9.2
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 78; verbal IQ, 50
14194215
14294025
99811
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11009.p1
9
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 93; verbal IQ, 96
11629701
11643986
14286
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11043.p1
8.4
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 106
13801391
13804769
3379
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
15149367
15290107
140741
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
14194215
14294025
99811
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
14194215
14249073
54859
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11110.p1
15.8
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 62; verbal IQ, 32
14180548
14196966
16419
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11135.p1
6.3
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102
14180548
14281865
101318
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11142.p1
7.9
M
Autism
NA
Full-scale IQ, 44; non-verbal IQ, 53; verbal IQ, 31
15178341
15290107
111767
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11321.p1
17.7
M
Autism
NA
Full-scale IQ, 12; non-verbal IQ, 17; verbal IQ, 7
14749327
14763988
14662
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11456.p1
8.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 77
14751050
14755088
4039
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11471.p1
13.9
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 89; verbal IQ, 31
14194215
14317767
123553
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11501.p1
11.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 71
14194215
14281865
87651
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
13801391
13804769
3379
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11561.p1
5.9
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 103; verbal IQ, 114
12910933
12927115
16183
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11860.p1
6
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 75
15047445
15099150
51706
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11959.p1
7.9
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 79; verbal IQ, 49
15062706
15067125
4420
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12033.p1
10.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
11911061
11913468
2408
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12044.p1
5.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
15062706
15070552
7847
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12058.p1
9.3
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 122; verbal IQ, 139
15055093
15075995
20903
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12312.p1
5.5
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 80; verbal IQ, 70
15039684
15108541
68858
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12378.p1
6.2
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 84; verbal IQ, 81
11916396
11938103
21708
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12409.p1
10.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 109
10915572
10919991
4420
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12894.p1
6.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
14745181
14763988
18808
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13095.p1
9.8
M
Autism
NA
Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
14753436
14758541
5106
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case531
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
11991133
12146345
155213
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case532
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
12090697
12163130
72434
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
poultney_13_ASD_discovery_controls-control04C38506A
N/A
F
Control
NIMH Control (NIMH ID 76095)
13438242
14106411
668170
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11009.s1
7.6
M
Control (matched sibling)
NA
NA
11629701
11643986
14286
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11043.s1
11.5
M
Control (matched sibling)
NA
NA
13801391
13804769
3379
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11117.s1
7.1
F
Control (matched sibling)
NA
NA
11878536
11879932
1397
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11135.s1
12.9
F
Control (matched sibling)
NA
NA
14253538
14281865
28328
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11178.s1
5.1
M
Control (matched sibling)
NA
NA
11629701
11643986
14286
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11206.s1
8.3
F
Control (matched sibling)
NA
NA
15184657
15282415
97759
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11383.s1
5.5
M
Control (matched sibling)
NA
NA
14194215
14294025
99811
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11390.s1
6.8
F
Control (matched sibling)
NA
NA
14194215
14281865
87651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11422.s1
8.5
F
Control (matched sibling)
NA
NA
15121867
15290107
168241
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11422.s1
8.5
F
Control (matched sibling)
NA
NA
14194215
14294025
99811
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11436.s1
6.5
F
Control (matched sibling)
NA
NA
15178341
15290107
111767
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11436.s1
6.5
F
Control (matched sibling)
NA
NA
14194215
14242305
48091
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11458.s1
14.5
M
Control (matched sibling)
NA
NA
15178341
15209635
31295
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11472.s1
10.6
F
Control (matched sibling)
NA
NA
15039966
15067125
27160
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
11559235
11565371
6137
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11561.s1
8.9
M
Control (matched sibling)
NA
NA
12898135
12927115
28981
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11677.s1
11.8
F
Control (matched sibling)
NA
NA
14751050
14755088
4039
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11707.s1
15.1
F
Control (matched sibling)
NA
NA
15062706
15070552
7847
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12623.s1
8.8
M
Control (matched sibling)
NA
NA
11616670
11643986
27317
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12838.s1
7.1
F
Control (matched sibling)
NA
NA
15069727
15075995
6269
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bremer_11_ASD_discovery_cases-case37
MLPA, FISH
Maternal
NA
NA
RNU6-324P,SDHDP1,CCDC58P3,IMPA2,ANKRD62
engchuan_15_ASD_discovery_cases-case13138_1553
Unknown
LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,GNAL
engchuan_15_ASD_discovery_cases-case20090_1392002
Unknown
LINC01928,LINC01255
engchuan_15_ASD_discovery_cases-case3435_3
Unknown
RNU6-324P,SDHDP1,IMPA2,ANKRD62
engchuan_15_ASD_discovery_cases-case3437_3
Unknown
MC5R,MC2R
engchuan_15_ASD_discovery_cases-case9749_201
Unknown
PTPN2,SEH1L,CEP192
gai_11_ASD_discovery_cases-AU1348304
Inherited
C18orf1, C18orf19, RNMT, MC5R, MC2R, ZNF519, LOC284233, CXADRP3, POTEC, ANKRD30B
gai_11_ASD_replication_cases-AU057403
Inherited
ANKRD30B
gai_11_ASD_replication_cases-AU057404
Inherited
ANKRD30B
girirajan_13a_ASD_discovery_cases-14196.p1
Unknown
Simplex
Unknown
PTPN2,SEH1L,CEP192
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004062
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FAM210A,ZNF519,RNMT,MC2R,LDLRAD4
krumm_15_ASD_discovery_cases-case14196.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
SEH1L,CEP192
marshall_08_ASD_discovery_cases-SK0328-003
qPCR, qmPCR
Unknown
NA
NA
MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,MC2R,NF1P5,ANKRD30B
mosca_16_DCD_discovery_cases-case101703
Unknown
Unknown
Unknown
RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,GTF2IP8,LINC01443,ANKRD30B
nava_13_ASD_discovery_cases-Fam932Proband10000
Paternal
Simplex
Unknown
FRG2LP,RNU6-316P,RHOT1P1,ZNF519,ANKRD20A5P,NF1P5
pinto_10_ASD_discovery_cases-case3435_003
qPCR-Paternal
paternal
Simplex
NA
RNU6-324P,SDHDP1,IMPA2,ANKRD62
pinto_10_ASD_discovery_cases-case5222_3
Agilent1M
maternal
NA
NA
ANKRD30B
prasad_12_ASD_discovery_cases-case126047
Unknown
Unknown
Unknown
C18orf19
prasad_12_ASD_discovery_cases-case67880
Unknown
Unknown
Unknown
GNAL
prasad_12_ASD_discovery_cases-case82302
Unknown
Unknown
Unknown
CXADRP3,ANKRD30B,MC2R,LOC284233,ZNF519,POTEC,MC5R
quintela_17_DD/ID_discovery_cases-caseID_263
Unknown
Unknown
LINC01928,SLC35G4,LINC01255,PIEZO2
quintela_17_DD/ID_discovery_cases-caseID_524
Unknown
Unknown
PTPN2,SEH1L,CEP192
quintela_17_DD/ID_discovery_cases-caseID_83
Unknown
Unknown
PTPN2,SEH1L,CEP192
reinthaler_14_EP_discovery_cases-caseAVRE08
Unknown
Unknown
Unknown
MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,RNMT,MC2R,NF1P5,ANKRD30B
sanders_11_ASD_discovery_cases-11000.p1
Maternal
Simplex (quad-proband matched)
Segregated
RHOT1P1,ANKRD20A5P
sanders_11_ASD_discovery_cases-11009.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NPIPB1P
sanders_11_ASD_discovery_cases-11043.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Not segregated
BNIP3P3
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Segregated
RHOT1P1,ANKRD20A5P
sanders_11_ASD_discovery_cases-11108.p1
Both parents
Simplex (quad-proband matched)
Segregated
RHOT1P1,ANKRD20A5P
sanders_11_ASD_discovery_cases-11110.p1
Paternal
Simplex (quad-proband matched)
Segregated
RNU6-316P,ANKRD20A5P
sanders_11_ASD_discovery_cases-11135.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-316P,RHOT1P1,ANKRD20A5P
sanders_11_ASD_discovery_cases-11142.p1
Unknown
Simplex (quad-proband matched)
Not segregated
BNIP3P3
sanders_11_ASD_discovery_cases-11321.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RNU6-1210P,ANKRD30B
sanders_11_ASD_discovery_cases-11456.p1
Both parents
Simplex (quad-proband matched)
Segregated
ANKRD30B
sanders_11_ASD_discovery_cases-11471.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RHOT1P1,ANKRD20A5P
sanders_11_ASD_discovery_cases-11501.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RHOT1P1,ANKRD20A5P
sanders_11_ASD_discovery_cases-11526.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11561.p1
Maternal
Simplex (quad-proband matched)
Not segregated
STK25P1,EIF4A2P1,PTPN2
sanders_11_ASD_discovery_cases-11860.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11959.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12033.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12044.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12058.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12312.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12378.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12409.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PIEZO2
sanders_11_ASD_discovery_cases-12894.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-1210P,ANKRD30B
sanders_11_ASD_discovery_cases-13095.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
ANKRD30B
yin_16_ASD_discovery_cases-case531
Unknown
Unknown
Unknown
RNU6-324P,SDHDP1,IMPA2,ANKRD62
yin_16_ASD_discovery_cases-case532
Unknown
Unknown
Unknown
RNU6-324P,SDHDP1,ANKRD62
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
poultney_13_ASD_discovery_controls-control04C38506A
Unknown
MIR5190,MIR4526,RN7SL362P,MC5R,FAM210A,ZNF519,RNMT,MC2R,LDLRAD4
sanders_11_ASD_discovery_controls-11009.s1
Maternal
Simplex (quad)
NA
NPIPB1P
sanders_11_ASD_discovery_controls-11043.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11117.s1
Paternal
Simplex (quad)
NA
GNAL
sanders_11_ASD_discovery_controls-11135.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11178.s1
Maternal
Simplex (quad)
NA
NPIPB1P
sanders_11_ASD_discovery_controls-11206.s1
Unknown
Simplex (quad)
NA
BNIP3P3
sanders_11_ASD_discovery_controls-11383.s1
Paternal
Simplex (quad)
NA
RHOT1P1,ANKRD20A5P
sanders_11_ASD_discovery_controls-11390.s1
Unknown
Simplex (quad)
NA
RHOT1P1,ANKRD20A5P
sanders_11_ASD_discovery_controls-11422.s1
Unknown
Simplex (quad)
NA
BNIP3P3
sanders_11_ASD_discovery_controls-11422.s1
Unknown
Simplex (quad)
NA
RHOT1P1,ANKRD20A5P
sanders_11_ASD_discovery_controls-11436.s1
Unknown
Simplex (quad)
NA
BNIP3P3
sanders_11_ASD_discovery_controls-11436.s1
Unknown
Simplex (quad)
NA
RHOT1P1,ANKRD20A5P
sanders_11_ASD_discovery_controls-11458.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11472.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11505.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11561.s1
Maternal
Simplex (quad)
NA
STK25P1,EIF4A2P1,PTPN2
sanders_11_ASD_discovery_controls-11677.s1
Both parents
Simplex (quad)
NA
ANKRD30B
sanders_11_ASD_discovery_controls-11707.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12623.s1
Paternal
Simplex (quad)
NA
NPIPB1P
sanders_11_ASD_discovery_controls-12838.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available