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3p25.1-p24.3CNV Type: Deletion


Largest CNV size: 1409600 bp

Statistics Box:
Number of Reports: 2



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
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

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
 957927
 1
 0
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 1409600
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 875991
 1
 1
 2
 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
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0

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
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 

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-ISCA00004079
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 14053769
 15011686
  957918
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-SK0152-003
 NA
 M
 ASD
 RL/EL moderate/sever delay, severe speech unintelligibility, moderate repetitive behavior, hypotonia
 LOF 31
 15109289
 16518889
  1409601
 GRCh38
 Deletion
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB592971_1007873531
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13934406
  14810384
  875979
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB679080_1007872565
  N/A
  N/A
  Control
  No previous psychiatric history
 
  14484523
  14772649
  288127
  GRCh38
  Duplication
  No

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-ISCA00004079
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 VN1R21P,RNA5SP124,RNU6-905P,RHBDF1P1,CHCHD4,TMEM43,LSM3,LINC01267,CCDC174,NR2C2,TPRXL,XPC,SLC6A6,GRIP2,LINC02011,FGD5,FGD5-AS1,C3orf20
 
 marshall_08_ASD_discovery_cases-SK0152-003
 qPCR, qmPCR
 
 De novo
 Multiplex-CHR
 NA
 RPS3AP53,SH3BP5-AS1,RNU6-454P,HMGN2P7,RNU6-1024P,MIR4270,RN7SL110P,MIR3134,RN7SL4P,MIR563,IMPDH1P8,DPH3,CAPN7,METTL6,EAF1,EAF1-AS1,BTD,GALNT15,OXNAD1,COL6A4P1,SH3BP5,COLQ,HACL1,RFTN1,ANKRD28
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB592971_1007873531
 
 
  Unknown
 
 
  FGD5P1,VN1R21P,RNA5SP124,RNU6-905P,RHBDF1P1,CHCHD4,TMEM43,LSM3,LINC01267,CCDC174,TPRXL,XPC,SLC6A6,GRIP2,LINC02011,C3orf20
 
engchuan_15_ASD_discovery_controls-controlB679080_1007872565
 
 
  Unknown
 
 
  RNU6-905P,RHBDF1P1,CCDC174,SLC6A6,GRIP2,C3orf20
 

No Animal Model Data Available
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