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11p15.1-p11.2CNV Type: Deletion


Largest CNV size: 24766000 bp

Statistics Box:
Number of Reports: 1



Summary Information

A de novo deletion within this region was identified in a 1-year-old female patient from a cohort of 337 Croatian patients presenting with developmental delay/intellectual disability (Sansovic et al., 2017).

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type

No Major Reports

Minor Reports

Title
Author, Year
Report Class
CNV Type
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 24766000
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None

Controls

No Control Data Available

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  sansovic_17_DD/ID/ASD_discovery_cases-case22
 1 yr.
 F
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies
 
 18805243
 43570939
  24765697
 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
 sansovic_17_DD/ID/ASD_discovery_cases-case22
 
 
 De novo
 
 
 MRGPRX1,PCNAP4,RNA5SP335,NAV2-AS5,MIR4486,MIR4694,NAV2-AS3,NAV2-AS2,NAV2-AS1,DBX1,HMGB1P40,RNA5SP336,RNA5SP337,FANCF,RNA5SP338,WIZP1,MIR8054,RNU6-783P,RPL36AP40,MUC15,FIBIN,LIN7C,MIR8087,RNA5SP339,CBX3P1,HSP90AA2P,MIR610,RN7SKP158,MIR8068,OR2BH1P,HNRNPRP2,RN7SL240P,RPL7AP58,LINC01616,FSHB,RPL12P30,CYCSP25,EIF4A2P5,HNRNPA3P9,PIGCP1,RPL29P23,C11orf91,FBXO3-DT,CIR1P3,MIR1343,CD44-AS1,KRT18P14,RPL12P31,MIR3973,RPL7AP56,LRRC6P1,RNU6-99P,RNU6-365P,RN7SKP287,CTBP2P6,MIR670,MIR670HG,MRGPRX2,CSRP3,E2F8,NAV2-IT1,NAV2-AS4,HTATIP2,SLC6A5,SLC17A6,LINC01495,SVIP,CCDC179,THAP12P4,SLC5A12,BBOX1,CCDC34,LINC00678,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,CD59,FBXO3,LMO2,NAT10,ELF5,EHF,CD44,FJX1,COMMD9,TRAF6,RAG2,C11orf74,API5,PPIAP41,ZDHHC13,PRMT3,GAS2,LUZP2,ANO3,BBOX1-AS1,LGR4,BDNF-AS,BDNF,KIF18A,LINC02546,KCNA4,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,CAPRIN1,ABTB2,CAT,APIP,PDHX,SLC1A2,PAMR1,TRIM44,LDLRAD3,PRR5L,RAG1,LINC01493,LINC01499,HNRNPKP3,TTC17,NAV2,NELL1,ANO5,METTL15,MPPED2,IMMP1L,LRRC4C,KIAA1549L
 

Controls

No Control Data Available
No Animal Model Data Available
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