19q13.2-q13.31CNV Type: Deletion
Largest CNV size: 683355 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
Summary Information
Summary statement in development
Additional Locus Information
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
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
683355
1
0
1
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
1210562
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
148828
1
0
1
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
2707185
0
1
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
2707186
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
415279
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
683355
0
0
0
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
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
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
girirajan_11_ASD_discovery_cases-Si64
10
F
Autism
ADOS score: 6. Vineland composite score: 70.
Severe mental retardation/intellectual disability. Full-scale IQ, 40; Verbal IQ, 47; Non-verbal IQ, 41.
42588175
43271530
683356
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005272
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
41930894
43141456
1210563
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case1925
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.
43390362
43539189
148828
Unknown
Deletion
No
kushima_18_SCZ_discovery_cases-caseSCZ0763
59 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 18 years of age (core symptoms include auditory hallucinations, reference delusions, social withdrawal). Brain imaging: mild diffuse cerebral atrophy on brain CT. EEG: abnormal EEG. Physical comorbidities: syncopal attacks. Congenital and developmental phenotypes: strabismus. Family history: negative.
IQ > 70
41608672
44315856
2707185
GRCh38
Duplication
N/A
kushima_22_SCZ_discovery_cases-caseSCZ0763
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
41608671
44315856
2707186
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case05HI4290A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1073302; NDAR ID NDAR_INVXB102NNA)
42594763
43010041
415279
GRCh38
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
girirajan_11_ASD_discovery_cases-Si64
Unknown
Simplex
RPS10P28,CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,CEACAM8,CEACAMP1,CEACAMP5,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,LIPE-AS1,PSG3,PSG9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005272
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RABAC1,MIR4323,MIR8077,CNFN,RNU4-60P,CEACAMP2,RPS10P28,CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,ATP1A3,GRIK5,POU2F2,ZNF526,GSK3A,ERF,CIC,PAFAH1B3,PRR19,TMEM145,LIPE,CXCL17,CEACAM1,CEACAM8,CEACAMP1,CEACAMP5,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,ZNF574,DEDD2,MEGF8,LIPE-AS1,PSG3
kanduri_15_ASD_discovery_cases-case1925
Paternal
Unknown
Unknown
PSG11,PSG6,PSG7
kushima_18_SCZ_discovery_cases-caseSCZ0763
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
CEACAM4,DNAJC19P3,CEACAM3,HNRNPA1P52,LYPD4,DMRTC2,MIR6797,RABAC1,MIR4323,MIR8077,CNFN,RNU4-60P,CEACAMP2,RPS10P28,CEACAMP6,PSG8-AS1,CEACAMP7,CEACAMP9,CEACAMP11,CEACAMP4,CD177,CD177P1,LYPD3,IRGQ,RN7SL368P,IRGC,ZNF222,RNU6-902P,NDUFA3P1,CEACAM5,CEACAM6,RPS19,CD79A,ARHGEF1,ATP1A3,GRIK5,POU2F2,ZNF526,GSK3A,ERF,CIC,PAFAH1B3,PRR19,TMEM145,LIPE,CXCL17,CEACAM1,CEACAM8,CEACAMP1,CEACAMP5,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,CEACAMP8,PSG2,PSG5,PSG4,CEACAMP10,TEX101,PHLDB3,ZNF575,XRCC1,PINLYP,ZNF576,SRRM5,ZNF428,CADM4,SMG9,LYPD5,ZNF283,ZNF404,ZNF45,ZNF221,ZNF155,ZNF230,ZNF223,ZNF284,ZNF224,ZNF225,ZNF234,ZNF227,ZNF233,CEACAM7,ZNF574,DEDD2,MEGF8,LIPE-AS1,PSG3,PSG9,ETHE1,PLAUR,KCNN4,ZNF226,ZNF235
kushima_22_SCZ_discovery_cases-caseSCZ0763
qRT-PCR
Unknown
CEACAM8,CEACAM1,CEACAM7,CEACAMP5,CEACAMP9,CEACAMP1,CEACAMP4,CEACAM5,CEACAM3,CEACAMP6,CEACAM4,CEACAMP7,CEACAMP10,CEACAMP8,CEACAMP2,CEACAMP11,CD79A,ATP1A3,MEGF8,ERF,LYPD3,IRGC,SMG9,CD177,DMRTC2,ZNF574,ZNF576,TEX101,CNFN,ZNF428,IRGQ,ZNF526,LYPD4,CADM4,DEDD2,GRIK5,GSK3A,ZNF575,LYPD5,TMEM145,ZNF283,CXCL17,PRR19,ZNF284,ZNF404,ZNF233,ERFL,PINLYP,PSG8,HNRNPA1P52,CD177P1,PSG10P,PHLDB3,PAFAH1B3,LIPE,CEACAM6,KCNN4,SRRM5,RPS10P28,NDUFA3P1,PSG8-AS1,MIR4323,POU2F2-AS1,DNAJC19P3,LIPE-AS1,ZNF230-DT,PSG9,PSG7,PSG3,PSG2,PSG5,PSG11,PSG1,PSG6,RPS19,PSG4,PLAUR,POU2F2,MIR8077,MIR6797,ZNF222-DT,RN7SL368P,RNU4-60P,RNU6-902P,ZNF221,ZNF222,ZNF223,XRCC1,ZNF230,ZNF225,ZNF227,ZNF226,ZNF155,ZNF45,ZNF224,ZNF45-AS1,ZNF235,ARHGEF1,RABAC1,ZNF234,ETHE1,CIC
poultney_13_ASD_discovery_cases-case05HI4290A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RPS10P28,CEACAMP6,PSG8-AS1,CEACAMP7,CEACAM8,CEACAMP1,CEACAMP5,PSG8,PSG10P,PSG1,PSG6,PSG7,PSG11,LIPE-AS1,PSG3
Controls
No Control Data Available
No Animal Model Data Available