Yq11.221-q11.222CNV Type: Deletion-Duplication
Largest CNV size: 1898520 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
CNVs involving this region were found in three cases from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
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
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
165283
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
1898520
1
2
3
kim_18_DD/ID_discovery_cases
Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
50
All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
52.0% Male
1400000
0
1
1
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
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
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
kim_18_DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
gazzellone_14_ASD_discovery_cases-case690-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
17685763
17851046
165284
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002280
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
17473635
18712542
1238908
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002293
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
17473635
18640716
1167082
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003866
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
17251556
19150076
1898521
GRCh38
Duplication
Yes
kim_18_DD/ID_discovery_cases-case21
1 mo.
M
Developmental delay
Dysmorphic features, seizure, failure to thrive, hemangioma in philtrum, severe vesicoureteral reflux, thinning of corpus callosum
Developmental delay
17473166
18867058
1393893
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
gazzellone_14_ASD_discovery_cases-case690-3
Unknown
Unknown
Unknown
CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,PRYP1,XKRY
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002280
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002293
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003866
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ELOCP35,TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,ZNF839P1,CD24P4,RNU6-255P,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2,TTTY14
kim_18_DD/ID_discovery_cases-case21
Unknown
TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2
Controls
No Control Data Available
No Animal Model Data Available