16q22.2CNV Type: Deletion
Largest CNV size: 344 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Minor Reports
Title
Author, Year
Report Class
CNV Type
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
344
1
0
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
50004
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
871
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
32842
4
0
4
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
0
0
0
0
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
4803
2
0
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
871
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
celestino-soper_11_ASD_discovery_cases-11533
NA
M
ASD
NA
NA
70974174
70974518
345
GRCh38
Deletion
No
kanduri_15_ASD_discovery_cases-case1921
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
71358937
71408940
50004
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case12628.p1
N/A
M
ASD
ASD proband from SSC quad family 12628. SRS score of 90.
Full-scale IQ (FSIQ) score of 118.
71967136
71968007
872
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case12225.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
71990279
71993332
3054
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13230.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
71967136
71999978
32843
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13514.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
71967136
71968007
872
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13799.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
71990254
71998396
8143
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
krumm_13_ASD_discovery_controls-control12628.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12628. SRS score of 54.
71963204
71968007
4804
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13447.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13447. SRS score N/A.
71967136
71968007
872
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11922.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
71967136
71968007
872
GRCh38
Deletion
Yes
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11533
Unknown
Simplex
NA
HYDIN
kanduri_15_ASD_discovery_cases-case1921
Maternal
Unknown
Unknown
CALB2
krumm_13_ASD_discovery_cases-case12628.p1
Paternal
Simplex
Not segregated
PKD1L3
krumm_15_ASD_discovery_cases-case12225.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
RPL39P31,PKD1L3
krumm_15_ASD_discovery_cases-case13230.p1
1M-Duov3
Maternal
Simplex
Segregated
RPL39P31,PKD1L3
krumm_15_ASD_discovery_cases-case13514.p1
1M-Duov3
Paternal
Simplex
Segregated
PKD1L3
krumm_15_ASD_discovery_cases-case13799.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
RPL39P31,PKD1L3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_13_ASD_discovery_controls-control12628.s1
Paternal
Simplex
PKD1L3
krumm_13_ASD_discovery_controls-control13447.s1
Paternal
Simplex
PKD1L3
krumm_15_ASD_discovery_controls-control11922.s1
Illumina 1MDuo
Paternal
PKD1L3
No Animal Model Data Available