HELP     Sign In

15q23-q24.2CNV Type: Deletion


Largest CNV size: 4289500 bp

Statistics Box:
Number of Reports: 3



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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
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
 5269115
 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
 
 
 4289500
 1
 0
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 4300440
 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
 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
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 4300440
 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
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 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
 
  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
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 

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-ISCA00003860
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 70788624
 76057736
  5269113
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-SK0243-003
 NA
 M
 ASD
 Severe language delay and dysmorphism, moderate repetitive behavior
 LOF severely impaired
 71521907
 75811404
  4289498
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case67941
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 69592164
 73892603
  4300440
 Unknown
 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-ISCA00003860
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL29P30,KRT8P9,THAP10,RPL5P3,CT62,HMGB1P6,RNA5SP399,EIF5A2P1,RNU2-65P,HEXA-AS1,RPL12P35,PHBP20,MIR630,RN7SL853P,NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,LARP6,NR2E3,SENP8,GRAMD2A,PARP6,CELF6,TMEM202,TMEM202-AS1,GOLGA6B,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,ODF3L1,DNM1P49,FBXO22,LRRC49,THSD4-AS1,MYO9A,PKM,ARIH1,LINC02259,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBE2Q2,NRG4,THSD4,HEXA,UBL7,PTPN9
 
 marshall_08_ASD_discovery_cases-SK0243-003
 qPCR, qmPCR
 
 De novo
 Simplex-CHR
 NA
 RNA5SP399,EIF5A2P1,RNU2-65P,HEXA-AS1,RPL12P35,PHBP20,MIR630,RN7SL853P,NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,DNM1P35,PPIAP47,MIR4313,RN7SL319P,NR2E3,SENP8,GRAMD2A,PARP6,CELF6,TMEM202,TMEM202-AS1,GOLGA6B,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,ODF3L1,DNM1P49,MYO9A,PKM,ARIH1,LINC02259,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,THSD4,HEXA,UBL7,PTPN9
 
 prasad_12_ASD_discovery_cases-case67941
 
 
 Unknown
 Unknown
 Unknown
 PKM2,C15orf59,PPCDC,CELF6,UBL7,HCN4,C15orf39,EDC3,ADPGK,MAN2C1,C15orf34,COX5A,LOXL1,CYP11A1,NPTN,CSK,TBC1D21,MIR631,MIR630,COMMD4,GRAMD2,TMEM202,NEO1,CCDC33,PML,SNX33,PARP6,SIN3A,ULK3,SCAMP5,SCAMP2,ARIH1,SENP8,PTPN9,STRA6,THSD4,SNUPN,RPP25,CPLX3,C15orf60,GOLGA6D,GOLGA6C,GOLGA6B,GOLGA6A,NR2E3,MIR4313,C15orf17,DNM1P35,SEMA7A,LOC283731,IMP3,CYP1A1,CYP1A2,ARID3B,ISLR,CSPG4,HEXA,HIGD2B,CD276,BBS4,STOML1,MPI,ODF3L1,NEIL1,MYO9A,LMAN1L,CLK3,ISLR2
 

Controls

No Control Data Available
No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.