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19q13.2-q13.31CNV Type: Deletion


Largest CNV size: 683355 bp

Statistics Box:
Number of Reports: 5



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
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
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
 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
 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
 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
  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
  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
 
 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
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