11q24.1-q24.3CNV Type: Duplication
Largest CNV size: 13469281 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A duplication within this region was identified in a case with dysmorphic features from a cohort of 57,365 individuals with a predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA) (Nguyen et al., 2013).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
13469281
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
nguyen_13_DD/ID/MCA/ASD_discovery_cases-251238
N/A
F
Dysmorphic features
Database: DECIPHER. Indication for study: Anaemia, broad base to nose, clinodactyly, hypertelorism, long philtrum, lung hypoplasia/agenesis, nuchal bleb/cystic hygroma of neck, pleural effusion/chylothorax, thin upper lip
121564073
135034169
13470097
GRCh38
Duplication
N/A
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nguyen_13_DD/ID/MCA/ASD_discovery_cases-251238
Unknown
Unknown
Unknown
RNU6-256P,MIR125B1,BLID,MIRLET7A2,MIR100,RNU4ATAC10P,RNU4ATAC5P,RNU6-592P,GLULP3,RNU4-23P,ATP5PBP5,RPL34P23,RPS26P43,RPL31P47,SNORD14E,SNORD14D,SNORD14C,PHBP17,MIR4493,SF3A3P2,OR6X1,RNU1-21P,OR6M1,OR6M2P,OR6M3P,TMEM225,OR8D4,OR4D5,OR6T1,OR10G6,OR10G5P,OR10G4,OR10G9,OR10G7,OR10D5P,OR10D4P,OR10D1P,OR10D3,OR8F1P,OR8G3P,OR8G2P,OR8G7P,OR8G1,OR8G5,SLC5A4P1,OR8D2,OR8B7P,OR8B6P,OR8B5P,OR8B1P,OR8C1P,OR8B2,OR8B3,OR8X1P,OR8B4,OR8B8,OR8A2P,OR8B9P,OR8B10P,OR8A3P,OR8B12,OR8Q1P,RNA5SP352,NRGN,ESAM,HEPN1,PKNOX2-AS1,RNU6-321P,RNU6-1156P,RNU2-35P,ACRV1,PATE2,PATE3,PATE4,VSIG10L2,NAP1L1P1,RNU4-86P,RN7SL351P,SRPRA,RPL35AP26,MIR3167,KIRREL3-AS3,RN7SKP121,RN7SKP279,MIR6090,ETS1-AS1,SENCR,C11orf45,RNU6-876P,RNU6-874P,ZNF123P,RPS27P20,LINC00167,ELOBP2,RPL34P21,DDX18P5,RN7SL778P,BAK1P2,MIR8052,PPP1R10P1,RN7SL167P,RNU6ATAC12P,NTM-AS1,OPCML-IT2,MIR4697HG,MIR4697,PTP4A2P2,ACAD8,CRTAM,BSX,HSPA8,SCN3B,OR10S1,OR10G8,OR10N1P,OR8D1,OR8A1,PANX3,TBRG1,SPA17,VSIG2,ROBO3,ROBO4,HEPACAM,CCDC15,SLC37A2,TMEM218,KRT18P59,EI24,STT3A,CHEK1,PATE1,HYLS1,PUS3,DDX25,RPUSD4,FOXRED1,TIRAP,DCPS,ST3GAL4,KIRREL3-AS1,KIRREL3-AS2,LINC02098,KCNJ5,TP53AIP1,BARX2,LINC01395,TMEM45B,PRDM10,APLP2,ST14,ADAMTS15,LINC02551,SNX19,NTM-IT,OPCML-IT1,SPATA19,VPS26B,THYN1,GLB1L3,B3GAT1,SORL1,MIR100HG,JHY,CLMP,GRAMD1B,VWA5A,SIAE,PKNOX2,FEZ1,CDON,FAM118B,GSEC,ETS1,FLI1,KCNJ1,NFRKB,ZBTB44,ADAMTS8,C11orf44,IGSF9B,JAM3,GLB1L2,UBASH3B,ZNF202,MSANTD2,KIRREL3,ARHGAP32,NTM,OPCML,NCAPD3
Controls
No Control Data Available
No Animal Model Data Available