11q23.2-q23.3CNV Type: Duplication
Largest CNV size: 7204462 bp
Statistics Box:
Number of Reports: 2
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
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