18p11.22-p11.21CNV Type: Duplication
Largest CNV size: 859800 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
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
1345506
0
1
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
3222416
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
1009386
1
0
1
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
859800
0
3
3
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
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
Array SNP (Affymetrix CytoScan HD)
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
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
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-case3023_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10571907
11917411
1345505
GRCh38
Duplication
No
pfundt_16_nonNDD_discovery_cases-case35
N/A
N/A
Non-NDD
Disease cohort: movement disorder. Description: GNAL deletion
9614477
12836892
3222416
GRCh38
Deletion
Yes
quintela_17_DD/ID_discovery_cases-caseID_549
7 yrs.
M
Intellectual disability
Additional clinical information N/A
Intellectual disability
10585540
11594923
1009384
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR022-A10-3023.004
NA
ASD
NA
NA
10751602
11611401
859800
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR022-G9-3023.002
NA
ASD
NA
NA
10751602
11611401
859800
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR022-H9-3023.003
NA
ASD
NA
NA
10751602
11611401
859800
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case3023_3
Unknown
CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,LINC01255,NPIPB1P,ASNSP6,MPPE1,LINC01887,PIEZO2,GNAL
pfundt_16_nonNDD_discovery_cases-case35
Array SNP (Affymetrix CytoScan HD)
RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,APCDD1,SPIRE1
quintela_17_DD/ID_discovery_cases-caseID_549
Unknown
Unknown
CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,LINC01255,LINC01887,PIEZO2
szatmari_07_ASD_discovery_cases-NAAR022-A10-3023.004
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
MIR6788,LINC01928,SLC35G4,LINC01255,PIEZO2
szatmari_07_ASD_discovery_cases-NAAR022-G9-3023.002
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
MIR6788,LINC01928,SLC35G4,LINC01255,PIEZO2
szatmari_07_ASD_discovery_cases-NAAR022-H9-3023.003
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
MIR6788,LINC01928,SLC35G4,LINC01255,PIEZO2
Controls
No Control Data Available
No Animal Model Data Available