4q34.1-q35.2CNV Type: Duplication


Largest CNV size: 15500000 bp

Statistics Box:
Number of Reports: 2



Summary Information

Summary statement in development

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-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Duplication

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
 18362445
 4
 1
 5
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 15500000
 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

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
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K (n=145) or 4x180K (n=219)
 Agilent ADM1, threshold 6.7
 Feature Extraction V10.10.1.1; Agilent DNA Analytics V3.5 or Agilent Genomic Wrokbench 6.5
 None

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
 

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-ISCA00004872
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 172665430
 191027875
  18362445
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002621
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 173357954
 191133668
  17775714
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002537
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 173514714
 191133668
  17618954
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000791
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 174757637
 189782479
  15024842
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005290
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 174912401
 190501443
  15589042
 NCBI36
 Deletion
 Yes
  tzetis_12_DD/ID_discovery_cases-case75
 
 M
 DD/ID
 Cleft palate, hypertelorism, agenesis of corpus callosum, ventricular septal defect, seizures, dyslexia, behavioral problems
 
 175621526
 191173881
  15500000
 UCSC NCBI36/hg18
 Duplication
 No

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-ISCA00004872
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GALNTL6,GALNT7,HMGB2,SAP30,SCRG1,HAND2,FBXO8,CEP44,HPGD,GLRA3,ADAM29,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
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002621
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 GALNTL6,GALNT7,HMGB2,SAP30,SCRG1,HAND2,FBXO8,CEP44,HPGD,GLRA3,ADAM29,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
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002537
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 GALNTL6,GALNT7,HMGB2,SAP30,SCRG1,HAND2,FBXO8,CEP44,HPGD,GLRA3,ADAM29,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
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000791
 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,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
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005290
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 FBXO8,CEP44,HPGD,GLRA3,ADAM29,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
 
 tzetis_12_DD/ID_discovery_cases-case75
 
 
 De novo
 Unknown
 
 HPGD,GLRA3,ADAM29,GPM6A,WDR17,SPATA4,ASB5,SPCS3,VEGFC,NEIL3,AGA,ODZ3,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
 

Controls

No Control Data Available
No Animal Model Data Available