9p24.1-p23CNV Type: Duplication
Largest CNV size: 1241453 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Duplications 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...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
221847
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
5651306
1
0
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
1241453
0
2
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
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
brandler_18_ASD_replication_cases-case2-1317-003
N/A
M
ASD
Case from MSSNG cohort
8782931
9004777
221847
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case15D589
5 mos. 16 days
M
Developmental delay
5039328
10690633
5651306
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001661
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8970379
10200188
1229810
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002235
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8955956
10197409
1241454
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case2-1317-003
No validation step reported
De novo
RNU7-185P,PTPRD-AS1,PTPRD
han_22_ASD/DD/ID_discovery_cases-case15D589
De novo
MLANA,RANBP6,CD274,PLGRKT,RIC1,ERMP1,PDCD1LG2,DMAC1,IL33,TPD52L3,UHRF2,KIAA2026,RPL4P5,INSL4,IGHEP2,GLDC,PPIAP33,RPS26P3,SNRPEP2,RPL23AP57,HMGN2P31,SELENOTP1,TCF3P1,AK4P4,RPL35AP20,PDSS1P1,JAK2,GTF3AP1,RNF2P1,RNF152P1,ACTG1P14,CSNK1G2P1,MIR4665,MTND5P14,MTND1P11,MTND4P14,RPS3AP54,PTPRD,RLN1,RN7SL5P,RLN2,PTPRD-AS1,PRELID3BP11,LINC02851,RN7SL25P,RNU7-185P,RN7SL123P,MTND6P5,MTCO1P11,MTCO3P11,MTCO2P11,MTATP6P11,INSL6,KDM4C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001661
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS26P3,RN7SL5P,PTPRD
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002235
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPS26P3,RN7SL5P,PTPRD
Controls
No Control Data Available
No Animal Model Data Available