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4q34.1-q35.1CNV Type: Deletion-Duplication


Largest CNV size: 15163671 bp

Statistics Box:
Number of Reports: 2



Summary Information

CNVs within this region were identified in cases from two recent CNV reports (Kaminsky et al., 2011; Nguyen et al., 2013).

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

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 disabilities.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type

No Minor Reports

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 9115067
 2
 0
 2
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from five databases: The Developmental Gene Anatomy Project at Harvard Medical School (DGAP, n=200); The Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP, n=120); The National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS, n=45); Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database (n=45,744); 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
 15163671
 0
 1
 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
 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
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K or 105K
 
 Feature Extraction & DNA Analytics
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH (n=45,744 from Signature Genomic Labs)
  SignatureChip BACs aCGH or SignatureChip Oligo whole-genome microarray (n=45,744)
 
 
 FISH

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K or 105K
 
  Feature Extraction & DNA Analytics
 
  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
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002430
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 175238618
 184353685
  9115067
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001237
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 176170781
 182810522
  6639741
 NCBI36
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC62865
 N/A
 F
 MCA
 Database: Signature. Indication for study: Fetal Hydrops, IUFD
 
 175970187
 191133858
  15163671
 hg19
 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
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002430
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FBXO8,CEP44,HPGD,GLRA3,ADAM29,GPM6A,WDR17,SPATA4,ASB5,SPCS3,VEGFC,NEIL3,AGA,TENM3,DCTD,WWC2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001237
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 GPM6A,WDR17,SPATA4,ASB5,SPCS3,VEGFC,NEIL3,AGA
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC62865
 FISH
 
 Unknown
 Unknown
 Unknown
 GPM6A,WDR17,SPATA4,ASB5,SPCS3,VEGFC,NEIL3,AGA,TENM3,DCTD,WWC2,CLDN22,CLDN24,CDKN2AIP,ING2,RWDD4,TRAPPC11,STOX2,ENPP6,IRF2,CASP3,CCDC111,MLF1IP,ACSL1,HELT,SLC25A4,KIAA1430,SNX25,LRP2BP,ANKRD37,UFSP2,C4orf47,CCDC110,PDLIM3,SORBS2,TLR3,FAM149A,CYP4V2,KLKB1,F11,MTNR1A,FAT1,ZFP42,TRIML2,TRIML1,FRG1,LOC100288255,FRG2,DUX2,DUX4L6,DUX4L3,DUX4L4,DUX4L5,DUX4L2,DUX4
 

Controls

No Control Data Available
No Animal Model Data Available

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