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11q23.2-q23.3CNV Type: Duplication


Largest CNV size: 7204462 bp

Statistics Box:
Number of Reports: 2



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

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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
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 feliciano_19_ASD_discovery_cases
 ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
 465
 All cases diagnosed with ASD
 Range of age at enrollment, 1.544.6 years
 80.86% Male
 2038042
 0
 1
 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
 7204462
 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
 feliciano_19_ASD_discovery_cases
  N/A
 WES
  Illumina HumanCoreExome 550K
 
 CoNIFER, XHMM
 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
  feliciano_19_ASD_discovery_cases-caseSP0000820
 N/A
 F
 ASD
 Family history: mother presents with anxiety and OCD; father negative for ASD, other mental health diagnoses unknown.
 
 113202378
 115240421
  2038044
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000202
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 113444446
 120648921
  7204476
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001247
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 115159099
 116045030
  885932
 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
 feliciano_19_ASD_discovery_cases-caseSP0000820
 
 
 De novo
 
 
 NCAM1-AS1,MIR4301,MTRF1LP1,RPS29P19,CLDN25,ATF4P4,LRRC37A13P,RNU6-1107P,NXPE2P1,ANKK1,DRD2,TMPRSS5,USP28,HTR3B,HTR3A,C11orf71,RBM7,REXO2,NXPE4,TTC12,ZW10,ZBTB16,NXPE1,NXPE2,NCAM1,NNMT,CADM1
 null
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000202
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MIR4301,MTRF1LP1,RPS29P19,CLDN25,ATF4P4,LRRC37A13P,RNU6-1107P,NXPE2P1,RPL12P46,LINC00900,LINC02151,APOA5,APOA4,APOC3,APOA1,RNY4P6,TAGLN,PRR13P3,RN7SL828P,SCN2B,HSPE1P18,CD3G,TTC36,RPL5P30,RNU6-1157P,MIR6716,TREHP1,RNU6-376P,SETP16,CXCR5,MIR4492,RPL23AP64,RPS25,TRAPPC4,HMBS,DPAGT1,PDZD3,RNU6-262P,MCAM,MIR6756,RNF26,C1QTNF5,DUXAP5,RNU6-1123P,TMEM136,ELOCP22,DRD2,TMPRSS5,USP28,HTR3B,HTR3A,C11orf71,RBM7,REXO2,NXPE4,BUD13,APOA1-AS,PAFAH1B2,SIDT2,PCSK7,RNF214,BACE1-AS,CEP164,FXYD2,FXYD6,TMPRSS13,IL10RA,SMIM35,SCN4B,JAML,MPZL2,CD3E,CD3D,UBE4A,ATP5MG,TMEM25,IFT46,ARCN1,TREH,BCL9L,UPK2,RN7SL688P,FOXR1,SLC37A4,HYOU1,VPS11,H2AFX,C2CD2L,HINFP,ABCG4,NLRX1,CCDC153,MFRP,USP2,THY1,KRT8P7,TRIM29,OAF,POU2F3,ZW10,ZBTB16,NXPE1,NXPE2,ZPR1,SIK3,BACE1,FXYD6-FXYD2,TMPRSS4,MPZL3,PHLDB1,DDX6,CCDC84,CBL,USP2-AS1,NECTIN1,ARHGEF12,NNMT,CADM1,KMT2A,GRIK4,DSCAML1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001247
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL12P46,LINC00900,CADM1
 

Controls

No Control Data Available
No Animal Model Data Available
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