HELP     Sign In

11p12-p11.2CNV Type: Deletion


Largest CNV size: 12134725 bp

Statistics Box:
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

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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
HELP
Copyright © 2017 MindSpec, Inc.