18p11.31-p11.23CNV Type: Duplication
Largest CNV size: 453000 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
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
483000
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
90587
1
0
1
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
500485
0
1
1
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
4733799
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
517456
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
1243415
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
1100000
0
2
2
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
453000
0
2
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
89451
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
1158266
0
1
1
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
1083000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% Male
483000
0
5
5
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
166203
0
1
1
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
436827
0
1
1
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
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
1425374
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)
89451
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
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
None
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
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
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chen_17_ASD_discovery_cases-caseU-1255
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 20 (past score 28); Qualitative abnormalities in verbal and nonverbal communication, current score 9 (past score 14); Qualitative abnormalities in nonverbal communication, current score 2 (past score 7); Restricted, repetitive, and stereotyped patterns of behaviour, current score 11 (past score 12); Abnormality of development evident at or before 36 months, past score 2. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 137; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 25. Epilepsy: no history of epilepsy.
Performance IQ n/a, Verbal IQ n/a, Full-scale IQ n/a
7079986
7563167
483182
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case5364_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
7188756
7279343
90588
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case668-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
7079997
7580483
500487
GRCh38
Duplication
No
guo_18_ASD/DD/ID_discovery_cases-caseBK-381-03
N/A
M
ASD and intellectual disability
Neural tube defect
Intellectual disability (FSIQ 57, NVIQ 65, VIQ 55)
3210401
7944200
4733800
GRCh38
Duplication
Yes
han_22_ASD/DD/ID_discovery_cases-caseC87
4 yrs. 1 mo.
M
ASD
7063028
7580483
517456
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002130
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
6881457
8124873
1243417
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002699
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7115076
7608220
493145
GRCh38
Duplication
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown69
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)
6932212
8113650
1181439
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown70
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 pathogenic (VOUS-LP)
6942022
8055877
1113856
GRCh38
Duplication
No
morrow_08_ASD_discovery_cases-case10601
NA
ASD
NA
NA
7075000
7204000
129000
Unknown
Duplication
No
morrow_08_ASD_discovery_cases-case10601
NA
ASD
NA
NA
7071000
7524000
453000
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case85024
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
7183672
7273122
89451
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_379
2 yrs.
F
Developmental delay
Additional clinical information N/A
Mild global developmental delay
6929191
8087457
1158267
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case70
2 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies
6973010
805587
1083000
GRCh37
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
chen_17_ASD_discovery_controls1-control22
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
7079986
7563167
483182
GRCh38
Duplication
chen_17_ASD_discovery_controls1-control23
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
7079986
7563167
483182
GRCh38
Duplication
chen_17_ASD_discovery_controls1-control24
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
7079986
7563167
483182
GRCh38
Duplication
chen_17_ASD_discovery_controls1-control25
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
7079986
7563167
483182
GRCh38
Duplication
chen_17_ASD_discovery_controls1-control26
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
7079986
7563167
483182
GRCh38
Duplication
engchuan_15_ASD_discovery_controls-controlHABC_902892_902892
N/A
N/A
Control
No previous psychiatric history
7134968
7301172
166205
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-107107567
N/A
N/A
Control
Ethnicity: Mixed Race
N/A
7112258
7549086
436829
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11442.s1
NA
M
Control
NA
NA
6487861
7913235
1425375
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chen_17_ASD_discovery_cases-caseU-1255
RT-qPCR
Paternal
Simplex
SLC25A51P2,LRRC30,LAMA1
engchuan_15_ASD_discovery_cases-case5364_3
Unknown
LRRC30
gazzellone_14_ASD_discovery_cases-case668-3
Unknown
Unknown
Unknown
SLC25A51P2,LRRC30,LAMA1,PTPRM
guo_18_ASD/DD/ID_discovery_cases-caseBK-381-03
aCGH, Sanger sequencing
De novo
Simplex
Segregated
MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MYOM1,DLGAP1,LINC00667,L3MBTL4,PTPRM
han_22_ASD/DD/ID_discovery_cases-caseC87
Unknown
LAMA1,LRRC30,SLC25A51P2,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002130
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,ARHGAP28,LAMA1,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002699
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
SLC25A51P2,LRRC30,LAMA1,PTPRM
maini_18_ASD/DD/ID_discovery_cases-case_unknown69
Unknown
Unknown
Unknown
RNU6-916P,SLC25A51P2,LRRC30,LAMA1,PTPRM
maini_18_ASD/DD/ID_discovery_cases-case_unknown70
Maternal
Unknown
Unknown
SLC25A51P2,LRRC30,LAMA1,PTPRM
morrow_08_ASD_discovery_cases-case10601
Maternal
NA
NA
LAMA1
morrow_08_ASD_discovery_cases-case10601
Maternal
NA
NA
LAMA1
prasad_12_ASD_discovery_cases-case85024
Unknown
Unknown
Unknown
LRRC30
quintela_17_DD/ID_discovery_cases-caseID_379
Unknown
Unknown
LINC00668,RNU6-916P,SLC25A51P2,LRRC30,LAMA1,PTPRM
sansovic_17_DD/ID/ASD_discovery_cases-case70
Unknown
YES1,ADCYAP1,METTL4,NDC80,SMCHD1,EMILIN2,LPIN2,MYOM1,MYL12A,MYL12B,TGIF1,DLGAP1,AKAIN1,ZBTB14,EPB41L3,TMEM200C,L3MBTL4,ARHGAP28,LAMA1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chen_17_ASD_discovery_controls1-control22
Unknown
SLC25A51P2,LRRC30,LAMA1
chen_17_ASD_discovery_controls1-control23
Unknown
SLC25A51P2,LRRC30,LAMA1
chen_17_ASD_discovery_controls1-control24
Unknown
SLC25A51P2,LRRC30,LAMA1
chen_17_ASD_discovery_controls1-control25
Unknown
SLC25A51P2,LRRC30,LAMA1
chen_17_ASD_discovery_controls1-control26
Unknown
SLC25A51P2,LRRC30,LAMA1
engchuan_15_ASD_discovery_controls-controlHABC_902892_902892
Unknown
SLC25A51P2,LRRC30
girirajan_13b_ASD_discovery_controls-107107567
Unknown
SLC25A51P2,LRRC30,LAMA1
levy_11_ASD_discovery_controls-11442.s1
De novo
Simplex
NA
RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,LINC01387,ARHGAP28,LAMA1,PTPRM
No Animal Model Data Available