Xq21.1-q21.2CNV Type: Deletion
Largest CNV size: 5820621 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Deletions involving this region were found in four 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
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
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
5820621
4
0
4
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
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
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001780
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
81762601
86471468
4708868
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002388
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
81762602
86457999
4695398
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002778
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
81765008
86444979
4679972
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005215
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
80329330
86150446
5821117
GRCh38
Deletion
Yes
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-ISCA00001780
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU6-974P,RPL22P22,ATG4AP1,TERF1P4,MIR548I4,SETP4,MIR1321,SFR1P2,MIR361,NDUFA5P7,STIP1P3,TPMTP4,EEF1A1P29,GEMIN8P3,POU3F4,ZNF711,RPS6KA6,HDX,APOOL,SATL1,POF1B,DACH2,UBE2DNL,CHM,CYLC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002388
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-974P,RPL22P22,ATG4AP1,TERF1P4,MIR548I4,SETP4,MIR1321,SFR1P2,MIR361,NDUFA5P7,STIP1P3,TPMTP4,EEF1A1P29,GEMIN8P3,POU3F4,ZNF711,RPS6KA6,HDX,APOOL,SATL1,POF1B,DACH2,UBE2DNL,CHM,CYLC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002778
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-974P,RPL22P22,ATG4AP1,TERF1P4,MIR548I4,SETP4,MIR1321,SFR1P2,MIR361,NDUFA5P7,STIP1P3,TPMTP4,EEF1A1P29,GEMIN8P3,POU3F4,ZNF711,RPS6KA6,HDX,APOOL,SATL1,POF1B,DACH2,UBE2DNL,CHM,CYLC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005215
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HNRNPH3P1,HK2P1,RNU6-493P,VDAC1P1,RNU6-995P,RNU6-974P,RPL22P22,ATG4AP1,TERF1P4,MIR548I4,SETP4,MIR1321,SFR1P2,MIR361,NDUFA5P7,STIP1P3,TPMTP4,CHMP1B2P,POU3F4,ZNF711,TENT5D,HMGN5,SH3BGRL,RPS6KA6,HDX,APOOL,SATL1,POF1B,DACH2,BRWD3,UBE2DNL,CHM,CYLC1
Controls
No Control Data Available
No Animal Model Data Available