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13q13.1CNV Type: Deletion


Largest CNV size: 19911 bp

Statistics Box:
Number of Reports: 4



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 disabili...
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 86649
 1
 0
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 ± 1.5 (mean verbal IQ, 81.9 ± 1.7; mean non-verbal IQ, 88.4 ± 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 19911
 3
 0
 3
 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
 371524
 1
 0
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 1773000
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 15818
 3
 0
 3
 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
 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
 87901
 2
 1
 3

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1 (n=334) or Illumina 1M v3 (n=840)
 PennCNV, QuantiSNP, & GNOSIS
 
 
 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
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, & GNOSIS
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K or 105K
 
  Feature Extraction & DNA Analytics
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  gai_11_ASD_replication_cases-AU015805
 
 
 Autism
 
 
 31156560
 31243208
  86649
 
 Deletion
 No
  sanders_11_ASD_discovery_cases-12102.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
 32428155
 32430028
  1873
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12170.p1
 7
 F
 ASD
 NA
 Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 77
 31426958
 31433996
  7038
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12757.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
 32419094
 32439005
  19911
 hg18
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005049
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 32490193
 32861717
  371524
 NCBI36
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-13590.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 32189999
 33960000
  1773000
 hg18
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  sanders_11_ASD_discovery_controls-11088.s1
  14
  F
  Control (matched sibling)
  NA
  NA
  31797388
  31813206
  15818
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11715.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  31426958
  31433996
  7038
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-13083.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  32499584
  32505028
  5444
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900046_900046
  N/A
  N/A
  Control
  No previous psychiatric history
 
  32229886
  32317787
  87901
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB944304_1007853858
  N/A
  N/A
  Control
  No previous psychiatric history
 
  31791271
  31870380
  79109
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB495422_1007852884
  N/A
  N/A
  Control
  No previous psychiatric history
 
  31804446
  31836003
  31557
  hg18
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 gai_11_ASD_replication_cases-AU015805
 
 
 Inherited
 
 
 RXFP2
 
 sanders_11_ASD_discovery_cases-12102.p1
 
 
 Unknown
 Simplex (trio)
 NA
 0 genes
 
 sanders_11_ASD_discovery_cases-12170.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 EEF1DP3
 
 sanders_11_ASD_discovery_cases-12757.p1
 
 
 Unknown
 Simplex (trio)
 NA
 0 genes
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005049
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 KL,STARD13
 
 girirajan_13a_ASD_discovery_cases-13590.p1
 
 
 Unknown
 Simplex
 Unknown
 PDS5B,KL,STARD13,RFC3
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11088.s1
 
 
  Unknown
  Simplex (quad)
  NA
  BRCA2
 
sanders_11_ASD_discovery_controls-11715.s1
 
 
  Paternal
  Simplex (quad)
  NA
  EEF1DP3
 
sanders_11_ASD_discovery_controls-13083.s1
 
 
  Unknown
  Simplex (quad)
  NA
  KL intronic
 
engchuan_15_ASD_discovery_controls-controlHABC_900046_900046
 
 
  Unknown
 
 
  PDS5B
 
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
 
 
  Unknown
 
 
  BRCA2
 
engchuan_15_ASD_discovery_controls-controlB495422_1007852884
 
 
  Unknown
 
 
  BRCA2
 

No Animal Model Data Available
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