7p11.2-q11.21CNV Type: Duplication
Largest CNV size: 4299999 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton duplication within this region was found in a case 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...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
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
4299999
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
7677246
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
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
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
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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-ISCA00004314
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
57021637
62311599
5289963
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case04HI3174A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
57119838
65399877
8280040
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-ISCA00004314
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PHKG1P4,MTCO3P10,MTND4LP32,MTND4P4,MTND5P6,MTND6P29,MTCYBP29,GUSBP10,MTND1P4,MTND2P6,MTCO3P4,MTND4P5,MTND5P7,MTCYBP5,GUSBP12,RNU7-157P,MIR3147,VN1R28P,SAPCD2P2,ZNF479,ZNF716,NCOR1P3,BSNDP4
poultney_13_ASD_discovery_cases-case04HI3174A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MTCO3P10,MTND4LP32,MTND4P4,MTND5P6,MTND6P29,MTCYBP29,GUSBP10,MTND1P4,MTND2P6,MTCO3P4,MTND4P5,MTND5P7,MTCYBP5,GUSBP12,RNU7-157P,MIR3147,VN1R28P,SAPCD2P2,RNU6-417P,ZNF90P3,SAPCD2P4,PHKG1P1,ZNF733P,ARAFP3,VN1R31P,VN1R32P,SLC25A1P2,VN1R33P,ARAFP2,SEPT7P5,PHKG1P2,SLC29A4P2,MIR4283-2,CICP24,GABPAP,NMD3P1,SLC25A1P3,VN1R34P,ARAFP1,VN1R35P,VN1R36P,TRIM60P17,MTND4P2,MTND4LP2,MTND3P2,MTCO3P8,MTATP6P18,MTCO2P8,MTCO1P8,MTND1P2,VN1R37P,VN1R38P,SAPCD2P1,TRIM60P18,YWHAEP1,VN1R40P,ZNF680P1,HNRNPCP7,BNIP3P42,MIR6839,SEPHS1P1,VN1R42P,MTDHP1,RNU6-1229P,SNORA22C,SNORA15B-1,RSL24D1P3,ZNF479,ZNF716,NCOR1P3,BSNDP4,SEPT14P1,SEPT7P4,ZNF734P,LINC01005,ZNF727,GUSBP6,MTND2P4,ZNF735,ZNF679,ZNF736,ZNF680,ZNF107,BNIP3P11,ZNF138,EEF1DP4,ZNF117,ERV3-1,CCT6P3,GTF2IP14,ZNF92,TNRC18P2,ZNF273,INTS4P1
Controls
No Control Data Available
No Animal Model Data Available