18q12.3-q21.1CNV Type: N/A
Largest CNV size: 5433469 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
De novo CNV identified in a case with developmental delay/intellectual disability (Girirajan et al., 2012)
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
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
NA
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
5433469
NA
NA
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
7582064
2
1
3
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
4500000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
5433469
NA
NA
NA
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
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
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
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
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
girirajan_12_ASD/DD/ID_discovery_cases-case40822
NA
M
Developmental delay
NA
NA
43869990
49357054
5487065
GRCh38
NA
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002588
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
45541699
46697357
1155659
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004035
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
40718750
47042515
6323766
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005340
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
40718750
48354407
7635658
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown75
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
44401938
48931607
4529670
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_12_ASD/DD/ID_discovery_cases-case40822
FISH, aCGH, or confirmation by inheritance
De novo
Unknown
Unknown
RNA5SP455,KRT8P5,MLECP1,MIR4319,RNY4P37,RNU6-1278P,ELOA3D,ELOA3C,ELOA3B,ELOA3,ELOA2,RNU6-1131P,MIR4527,TPMTP1,MTCO2P2,RNU6-708P,C18orf12,RNA5SP456,POLR3GP2,MIR4743,MIR4744,SIGLEC15,RN7SKP26,ATP5F1A,HAUS1,C18orf25,ST8SIA5,PIAS2,HDHD2,IER3IP1,SKOR2,SMAD7,LINC01478,SETBP1,SLC14A2,SLC14A2-AS1,SLC14A1,EPG5,PSTPIP2,RNF165,LOXHD1,KATNAL2,MIR4527HG,SMAD2,CTIF,ZBTB7C,DYM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002588
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNY4P37,RNU6-1278P,SIGLEC15,RN7SKP26,ATP5F1A,HAUS1,C18orf25,ST8SIA5,SLC14A2,SLC14A1,EPG5,PSTPIP2,RNF165,LOXHD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004035
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP454,RNA5SP455,KRT8P5,MLECP1,MIR4319,RNY4P37,RNU6-1278P,ELOA3D,ELOA3C,ELOA3B,ELOA3,ELOA2,SYT4,SIGLEC15,RN7SKP26,ATP5F1A,HAUS1,C18orf25,ST8SIA5,PIAS2,KC6,PIK3C3,LINC00907,LINC01478,SETBP1,SLC14A2,SLC14A2-AS1,SLC14A1,EPG5,PSTPIP2,RNF165,LOXHD1,KATNAL2,RIT2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005340
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP454,RNA5SP455,KRT8P5,MLECP1,MIR4319,RNY4P37,RNU6-1278P,ELOA3D,ELOA3C,ELOA3B,ELOA3,ELOA2,RNU6-1131P,MIR4527,TPMTP1,MTCO2P2,RNU6-708P,C18orf12,SYT4,SIGLEC15,RN7SKP26,ATP5F1A,HAUS1,C18orf25,ST8SIA5,PIAS2,HDHD2,IER3IP1,SKOR2,KC6,PIK3C3,LINC00907,LINC01478,SETBP1,SLC14A2,SLC14A2-AS1,SLC14A1,EPG5,PSTPIP2,RNF165,LOXHD1,KATNAL2,MIR4527HG,SMAD2,RIT2,ZBTB7C
maini_18_ASD/DD/ID_discovery_cases-case_unknown75
De novo
Unknown
Unknown
MLECP1,MIR4319,RNY4P37,RNU6-1278P,ELOA3D,ELOA3C,ELOA3B,ELOA3,ELOA2,RNU6-1131P,MIR4527,TPMTP1,MTCO2P2,RNU6-708P,C18orf12,RNA5SP456,POLR3GP2,MIR4743,SIGLEC15,RN7SKP26,ATP5F1A,HAUS1,C18orf25,ST8SIA5,PIAS2,HDHD2,IER3IP1,SKOR2,SMAD7,LINC01478,SETBP1,SLC14A2,SLC14A2-AS1,SLC14A1,EPG5,PSTPIP2,RNF165,LOXHD1,KATNAL2,MIR4527HG,SMAD2,CTIF,ZBTB7C
Controls
No Control Data Available
No Animal Model Data Available