HELP     Sign In

15q13.3-q14CNV Type: Deletion-Duplication


Largest CNV size: 7067932 bp

Statistics Box:
Number of Reports: 2



Summary Information

CNVs 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

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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-Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
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
 7067932
 1
 1
 2
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 3866000
 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
 1985641
 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

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
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)

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
 

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-ISCA00001105
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 32607298
 35200429
  2593132
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002547
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 32326136
 39394068
  7067933
 GRCh38
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-case2-1290-004
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: Flap surgery due to a nasal sound in his speech, muscles weren't contracting when he spoke
 
 32605799
 36471799
  3866001
 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-control110036004554_r
  N/A
  N/A
  Control
  No previous psychiatric history
 
  32541458
  34527099
  1985642
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB127432_1007854081
  N/A
  N/A
  Control
  No previous psychiatric history
 
  32607337
  34520472
  1913136
  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-ISCA00001105
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 HNRNPA1P71,PGBD4,NOP10,LPCAT4,MIR1233-1,HNRNPLP2,FSCN1P1,MIR1233-2,GJD2,ACTC1,NANOGP8,PRELID1P4,GOLGA8N,SCG5,GREM1,TMCO5B,CHRM5,EMC7,EMC4,SLC12A6,NUTM1,ACTG1P15,GOLGA8A,GOLGA8B,LINC02252,ZNF770,ANP32AP1,ARHGAP11A,FMN1,AVEN,KATNBL1,AQR,RYR3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002547
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,HNRNPA1P71,PGBD4,NOP10,LPCAT4,MIR1233-1,HNRNPLP2,FSCN1P1,MIR1233-2,GJD2,ACTC1,NANOGP8,PRELID1P4,NUTF2P6,RBM17P4,MIR3942,HNRNPA1P45,MIR4510,COX6CP4,TPST2P1,MIR8063,LINC01852,C15orf54,ULK4P1,LINC02256,GOLGA8N,SCG5,GREM1,TMCO5B,CHRM5,EMC7,EMC4,SLC12A6,NUTM1,ACTG1P15,GOLGA8A,GOLGA8B,LINC02252,ZNF770,ANP32AP1,LARP4P,CSNK1A1P1,TMCO5A,FAM98B,ARHGAP11A,FMN1,AVEN,KATNBL1,AQR,DPH6,MEIS2,LINC02345,SPRED1,RASGRP1,DPH6-DT,C15orf41,C15orf53,RYR3
 
 yuen_17_ASD_discovery_cases-case2-1290-004
 Affymetrix 6.0
 
 De novo
 Multiplex
 Not segregated
 HNRNPA1P71,PGBD4,NOP10,LPCAT4,MIR1233-1,HNRNPLP2,FSCN1P1,MIR1233-2,GJD2,ACTC1,NANOGP8,PRELID1P4,NUTF2P6,RBM17P4,MIR3942,HNRNPA1P45,MIR4510,GOLGA8N,SCG5,GREM1,TMCO5B,CHRM5,EMC7,EMC4,SLC12A6,NUTM1,ACTG1P15,GOLGA8A,GOLGA8B,LINC02252,ZNF770,ANP32AP1,ARHGAP11A,FMN1,AVEN,KATNBL1,AQR,DPH6,DPH6-DT,RYR3
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036004554_r
 
 
  Unknown
 
 
  RN7SL286P,HNRNPA1P71,PGBD4,NOP10,LPCAT4,MIR1233-1,HNRNPLP2,FSCN1P1,LINC02256,GOLGA8N,SCG5,GREM1,TMCO5B,CHRM5,EMC7,EMC4,SLC12A6,NUTM1,ACTG1P15,GOLGA8A,GOLGA8B,ARHGAP11A,FMN1,AVEN,KATNBL1,RYR3
 
engchuan_15_ASD_discovery_controls-controlB127432_1007854081
 
 
  Unknown
 
 
  HNRNPA1P71,PGBD4,NOP10,LPCAT4,MIR1233-1,HNRNPLP2,FSCN1P1,SCG5,GREM1,TMCO5B,CHRM5,EMC7,EMC4,SLC12A6,NUTM1,ACTG1P15,GOLGA8A,ARHGAP11A,FMN1,AVEN,KATNBL1,RYR3
 

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