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Yq11.221-q11.222CNV Type: Deletion-Duplication


Largest CNV size: 1898520 bp

Statistics Box:
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

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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
NA
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
  NA NA
 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
  NA NA
 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
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