11p12-p11.2CNV Type: Deletion
Largest CNV size: 12134725 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton deletion 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...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
jiao_19_EP/DD/ID_discovery_cases
Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
220
Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
Range, 1 mo.- 14 yrs.
60.45% Male
3660000
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
12134725
1
0
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
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
jiao_19_EP/DD/ID_discovery_cases
China
WGS
Low-coverage whole genome sequencing
Illumina BclToFastq
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
jiao_19_EP/DD/ID_discovery_cases-case71672
1 yr 11 mos.
Female
DD and ID
Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: motor deterioration, inability to walk. Behavioral/psychiatric evaluation: agitation. Additional medical history: bronchitis.
Intellectual disability
42976210
46636210
3660001
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003945
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
36508280
48643003
12134724
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
jiao_19_EP/DD/ID_discovery_cases-case71672
Unknown
Unknown
Unknown
RN7SKP287,CTBP2P6,MIR670,MIR670HG,RPL23AP63,PHBP2,SEC14L1P1,ALKBH3-AS1,RPL34P22,MIR7154,C11orf94,PEX16,MIR4688,CHRM4,MIR3160-1,MIR3160-2,API5,PPIAP41,MIR129-2,C11orf96,ACCSL,ACCS,TP53I11,SYT13,CHST1,SLC35C1,MAPK8IP1,LARGE2,CREB3L1,DGKZ,MDK,HARBI1,HNRNPKP3,TTC17,HSD17B12,ALKBH3,EXT2,ALX4,CD82,TSPAN18,PRDM11,CRY2,PHF21A,LINC02489,AMBRA1,ATG13
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003945
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL7AP56,LRRC6P1,RNU6-99P,RNU6-365P,RN7SKP287,CTBP2P6,MIR670,MIR670HG,RPL23AP63,PHBP2,SEC14L1P1,ALKBH3-AS1,C11orf96,RPL34P22,MIR7154,DKFZp779M0652,C11orf94,PEX16,MIR4688,CHRM4,MIR3160-1,MIR3160-2,ZNF408,MIR5582,SNORD67,MIR6745,ACP2,MIR4487,PSMC3,RN7SL652P,PTPMT1,KBTBD4,RNU5E-10P,FAM180B,C1QTNF4,RNA5SP340,YPEL5P2,PTPRJ-AS1,MIR3161,OR4B1,OR4B2P,OR4X2,OR4X1,OR4S1,OR4C3,OR4C2P,OR4C10P,OR4C9P,OR4R1P,OR4A47,OR4A48P,OR4A43P,OR4A45P,OR4A41P,OR4A42P,TRAF6,RAG2,C11orf74,API5,PPIAP41,MIR129-2,ACCSL,ACCS,TP53I11,SYT13,CHST1,SLC35C1,MAPK8IP1,LARGE2,CREB3L1,DGKZ,MDK,HARBI1,ARHGAP1,F2,LRP4-AS1,LRP4,ARFGAP2,DDB2,NR1H3,MYBPC3,SPI1,SLC39A13,CELF1,MTCH2,FNBP4,OR4C4P,OR4A40P,RAG1,LINC01493,LINC01499,HNRNPKP3,TTC17,HSD17B12,ALKBH3,EXT2,ALX4,CD82,TSPAN18,PRDM11,CRY2,PHF21A,LINC02489,AMBRA1,ATG13,CKAP5,C11orf49,MADD,RAPSN,NDUFS3,AGBL2,NUP160,PTPRJ,OR4C5,OR4A46P,OR4A44P,LRRC4C,PACSIN3
Controls
No Control Data Available
No Animal Model Data Available