Yp11.31CNV Type: Duplication
Largest CNV size: 309660 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
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
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
314566
1
2
3
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
309660
0
1
1
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
356000
0
1
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001600
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2786926
2994952
208027
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001600
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2210832
2525377
314546
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001600
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1886526
1938143
51618
GRCh38
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case21482
NA
NA
ASD
NA
NA
2411697
2721357
309660
Unknown
Duplication
Yes
soueid_16_ASD_discovery_cases-caseBAK41
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
2999137
3354911
355775
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001600
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SRY,RNASEH2CP1,TOMM22P2,NAP1L1P2,ZFY,ZFY-AS1,RPS4Y1,HSFY3P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001600
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001600
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
rosenfeld_10_ASD_discovery_cases-case21482
FISH
Paternal
Unknown
Unknown
DHRSX,ZBED1,CD99,SRY
soueid_16_ASD_discovery_cases-caseBAK41
Paternal
Simplex
AGPAT5P1,ZFY-AS1,LINC00278
Controls
No Control Data Available
No Animal Model Data Available