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15q21.1-q21.3CNV Type: Deletion


Largest CNV size: 8153525 bp

Statistics Box:
Number of Reports: 2



Summary Information

Deletions 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...
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion

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
 8153525
 2
 0
 2
 lee_17_ASD/DD/ID/MCA_discovery_cases
 Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
 42
 Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
 Range, newborn-38 yrs.
 69.05% Male
 7356206
 1
 0
 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, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 lee_17_ASD/DD/ID/MCA_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.3.2.0.1252
 None

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
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005135
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 48695331
 53923002
  5227672
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005281
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 46042302
 54195828
  8153527
 GRCh38
 Deletion
 Yes
  lee_17_ASD/DD/ID/MCA_discovery_cases-case21
 6 yrs.
 M
 Intellectual disability
 Dystonia, long limbs
 Intellectual disability
 46121149
 53477356
  7356208
 GRCh38
 Deletion
 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-ISCA00005135
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 EID1,KRT8P24,RN7SL577P,NDUFAF4P1,MIR4716,RN7SL307P,RNA5SP394,RN7SL494P,RNU6-94P,GABPB1-IT1,MIR4712,AHCYP7,RNA5SP395,RN7SL354P,DCAF13P3,MIR4713,MIR7973-2,MIR7973-1,RNU6-90P,MAPK6-DT,BCL2L10,MIR1266,EEF1B2P1,RPSAP55,EEF1A1P22,RNU2-53P,RNU6-449P,FGF7,DTWD1,HDC,GABPB1-AS1,USP50,TNFAIP8L3,SCG3,LYSMD2,LEO1,CERNA1,MYO5C,ONECUT1,LINC02490,CEP152,SHC4,SECISBP2L,COPS2,FAM227B,ATP8B4,SLC27A2,USP8,TRPM7,SPPL2A,AP4E1,MIR4713HG,CYP19A1,DMXL2,TMOD2,TMOD3,MAPK6,GNB5,ARPP19,FAM214A,WDR72,GALK2,GLDN,MYO5A,GABPB1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005281
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MTND5P40,RNU6-1014P,RN7SKP101,RN7SKP139,EID1,KRT8P24,RN7SL577P,NDUFAF4P1,MIR4716,RN7SL307P,RNA5SP394,RN7SL494P,RNU6-94P,GABPB1-IT1,MIR4712,AHCYP7,RNA5SP395,RN7SL354P,DCAF13P3,MIR4713,MIR7973-2,MIR7973-1,RNU6-90P,MAPK6-DT,BCL2L10,MIR1266,EEF1B2P1,RPSAP55,EEF1A1P22,RNU2-53P,RNU6-449P,SLC24A5,MYEF2,CTXN2,DUT,FGF7,DTWD1,HDC,GABPB1-AS1,USP50,TNFAIP8L3,SCG3,LYSMD2,LEO1,CERNA1,MYO5C,ONECUT1,LINC02490,LINC01491,FBN1,CEP152,SHC4,SECISBP2L,COPS2,FAM227B,ATP8B4,SLC27A2,USP8,TRPM7,SPPL2A,AP4E1,MIR4713HG,CYP19A1,DMXL2,TMOD2,TMOD3,MAPK6,GNB5,ARPP19,FAM214A,WDR72,SEMA6D,SLC12A1,GALK2,GLDN,MYO5A,UNC13C,GABPB1
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case21
 
 
 Unknown
 
 
 MTND5P40,RNU6-1014P,RN7SKP101,RN7SKP139,EID1,KRT8P24,RN7SL577P,NDUFAF4P1,MIR4716,RN7SL307P,RNA5SP394,RN7SL494P,RNU6-94P,GABPB1-IT1,MIR4712,AHCYP7,RNA5SP395,RN7SL354P,DCAF13P3,MIR4713,MIR7973-2,MIR7973-1,RNU6-90P,MAPK6-DT,BCL2L10,MIR1266,EEF1B2P1,RPSAP55,EEF1A1P22,SLC24A5,MYEF2,CTXN2,DUT,FGF7,DTWD1,HDC,GABPB1-AS1,USP50,TNFAIP8L3,SCG3,LYSMD2,LEO1,CERNA1,MYO5C,ONECUT1,LINC02490,LINC01491,FBN1,CEP152,SHC4,SECISBP2L,COPS2,FAM227B,ATP8B4,SLC27A2,USP8,TRPM7,SPPL2A,AP4E1,MIR4713HG,CYP19A1,DMXL2,TMOD2,TMOD3,MAPK6,GNB5,ARPP19,FAM214A,SEMA6D,SLC12A1,GALK2,GLDN,MYO5A,GABPB1
 

Controls

No Control Data Available
No Animal Model Data Available
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