Xq27.1-q27.2CNV Type: Duplication
Largest CNV size: 604538 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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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.
Duplication
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
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
1220545
0
3
3
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
1918475
2
1
3
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
604538
0
1
1
willemsen_12_DD/ID_discovery_cases
Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
4407
Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
2/3 of cases: age range of 1-18 yrs.
54.5% Male
330000
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
289890
0
4
4
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
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
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
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
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
willemsen_12_DD/ID_discovery_cases
Netherlands
aCGH, array SNP
Agilent 32K BAC array, Affymetrix 250K
CNAG V2.0 (SNP array)
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
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
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-case13003_43
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
141127483
141269607
142125
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2279_102
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140824583
141245587
421005
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6276_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140936689
142151613
1214925
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001221
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
141160282
141469623
309342
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001253
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
141160282
142463521
1303240
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004807
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
139928002
141840850
1912849
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11187.p1
7.8
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 115; verbal IQ, 108
140996588
141595163
598576
GRCh38
Duplication
No
willemsen_12_DD/ID_discovery_cases-case57
F
ASD and intellectual disability
Severe ID, ASD
Severe ID
141128145
141464340
336196
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-controlB632671_1007846468
N/A
N/A
Control
No previous psychiatric history
140998510
141276425
277916
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900341_900341
N/A
N/A
Control
No previous psychiatric history
141094397
141276425
182029
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901236_901236
N/A
N/A
Control
No previous psychiatric history
141118214
141269607
151394
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902866_902866
N/A
N/A
Control
No previous psychiatric history
141118214
141269607
151394
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case13003_43
Unknown
LDOC1,SPANXC,RBMX2P2
engchuan_15_ASD_discovery_cases-case2279_102
Unknown
MIR320D2,SPANXB1,RNU6-3P,LDOC1,SPANXC
engchuan_15_ASD_discovery_cases-case6276_3
Unknown
SPANXB1,RNU6-3P,LDOC1,SPANXC,SPANXA1,SPANXD,MAGEC1,RBMX2P2,SPANXA2,MAGEC3,SPANXA2-OT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001221
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LDOC1,SPANXC,RBMX2P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001253
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LDOC1,SPANXC,SPANXA1,SPANXD,MAGEC1,MAGEC2,RNA5SP516,RBMX2P2,SPANXA2,MAGEC3,SPANXA2-OT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004807
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CXorf66,HNRNPA3P3,RN7SL727P,RPS17P17,SOX3,CDR1,MIR320D2,SPANXB1,RNU6-3P,LDOC1,SPANXC,SPANXA1,SPANXD,RBMX2P2,SPANXA2,MAGEC3,ATP11C,LINC00632,SPANXA2-OT1
sanders_11_ASD_discovery_cases-11187.p1
Unknown
Simplex (quad-proband matched)
Segregated
SPANXB1,RNU6-3P,LDOC1,SPANXC,SPANXA1,RBMX2P2,SPANXA2,SPANXA2-OT1
willemsen_12_DD/ID_discovery_cases-case57
Paternal
LDOC1,SPANXC,RBMX2P2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB632671_1007846468
Unknown
SPANXB1,RNU6-3P,LDOC1,SPANXC,RBMX2P2
engchuan_15_ASD_discovery_controls-controlHABC_900341_900341
Unknown
RNU6-3P,LDOC1,SPANXC,RBMX2P2
engchuan_15_ASD_discovery_controls-controlHABC_901236_901236
Unknown
LDOC1,SPANXC,RBMX2P2
engchuan_15_ASD_discovery_controls-controlHABC_902866_902866
Unknown
LDOC1,SPANXC,RBMX2P2
No Animal Model Data Available