7p14.1-p13CNV Type: Deletion-Duplication
Largest CNV size: 5935576 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
CNVs within this region were found in two 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
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
hu_22_ASD_discovery_cases
Patients receiving a diagnosis of ASD in the Department of Child Health Care, Children's Hospital of Fudan University, that were included consecutively from January 2019 to December 2020.
573
Cases met criteria for autism spectrum disorder (ASD) using DSM-5 criteria.
Range, 16 mos.-12.8 yrs. (mean, 3.6 yrs)
80.1% Male
3023955
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
5935576
1
1
2
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
hu_22_ASD_discovery_cases
China
Targeted gene panel sequencing
Illumina HiSeq X10
CANOES, HMZDelFinder
PICNIC, AnnotSV
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
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
hu_22_ASD_discovery_cases-case6
NA
M
ASD
Case met criteria for ASD using DSM-5.
41685112
44709066
3023955
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001962
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
42388724
43606751
1218028
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002607
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
39814159
45749735
5935577
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
hu_22_ASD_discovery_cases-case6
Unknown
CAMK2B,BLVRA,AEBP1,POLM,UBE2D4,NPC1L1,DBNL,DDX56,URGCP,COA1,MYL7,MRPS24,C7orf25,MRPL32,POLR2J4,GCK,GLI3,INHBA,TMED4,LINC00957,INHBA-AS1,SPDYE1,RASA4CP,TUBG1P,TCP1P1,RPL32P18,HECW1-IT1,OGDH,RNU7-35P,HMGN2P30,MIR3943,MIR4649,LUARIS,URGCP-MRPS24,RNA5SP230,POLD2,PSMA2,PGAM2,LINC01448,MIR6837,MIR6838,RNU6-1097P,RNU6-575P,STK17A,YKT6,HECW1,NUDCD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001962
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3943,RNU7-35P,RNU6-575P,LINC01448,TCP1P1,C7orf25,PSMA2,MRPL32,HECW1,HECW1-IT1,LUARIS,STK17A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002607
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RWDD4P2,RN7SL496P,MPLKIP,THUMPD3P1,HMGN2P30,MIR3943,RNU7-35P,RNU6-575P,MRPS24,TUBG1P,MIR6837,PGAM2,MIR6838,MIR4649,RNA5SP230,MYL7,RNU6-1097P,DDX56,LINC01952,PURB,MIR4657,SNHG15,SNORA9,SNORA5A,SNORA5C,SNORA5B,ELK1P1,LINC01450,LINC01449,INHBA-AS1,LINC01448,TCP1P1,C7orf25,PSMA2,MRPL32,URGCP-MRPS24,UBE2D4,POLR2J4,SPDYE1,DBNL,POLM,AEBP1,POLD2,YKT6,NPC1L1,TMED4,ZMIZ2,PPIA,H2AFV,MYO1G,CCM2,TBRG4,RAMP3,CDK13,SUGCT,INHBA,GLI3,HECW1,HECW1-IT1,LUARIS,STK17A,COA1,BLVRA,URGCP,GCK,CAMK2B,NUDCD3,OGDH,ADCY1,SEPT7P2,RASA4CP,LINC00957,NACAD
Controls
No Control Data Available
No Animal Model Data Available