20p13-p12.3CNV Type: Duplication
Largest CNV size: 404642 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Rare singleton duplication within this region was found in a case 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
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...
Duplication
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
404642
0
1
1
sebat_07_ASD_discovery_cases
118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism andDevelopmental Disorders, Vanderbilt University, University of Chicago)
195
Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded
5316286
0
0
0
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
sebat_07_ASD_discovery_controls
Controls from families with no diagnoses of autism (AGRE, NIMH, University of Tampere, Vanderbilt University, University of Chicago, Columbia University, the Centre dEtude du Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University)Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University
196
Controls
5316286
0
1
1
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
sebat_07_ASD_discovery_cases
ROMA
HMM
S-PLUS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
sebat_07_ASD_discovery_controls
ROMA
HMM
S-PLUS
390K ROMA, Agilent 244K, G-banded karyotyping, FISH, microsatellite
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-ISCA00002230
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
5030412
5435054
404643
GRCh38
Duplication
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
sebat_07_ASD_discovery_controls-AU070807
NA
F
Unaffected (Control)
NA
NA
111824
5428110
5316286
Unknown
Duplication
Yes
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-ISCA00002230
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP474,PCNA,UBE2D3P1,RNA5-8SP7,CDS2,PROKR2,LINC00658,TMEM230
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sebat_07_ASD_discovery_controls-AU070807
390K ROMA or Agilent 244K aCGH
De novo
Simplex
NA
DEFB128,DEFB129,DEFB132,C20orf96,ZCCHC3,SOX12,NRSN2,TRIB3,RBCK1,TBC1D20,CSNK2A1,TCF15,SRXN1,SCRT2,C20orf54,FAM110A,ANGPT4,RSPO4,PSMF1,C20orf46,C20orf202,RAD21L1,SNPH,FKBP1A-SDCBP2,SDCBP2,LOC100507495,FKBP1A,NSFL1C,SIRPB2,SIRPD,SIRPB1,SIRPG,LOC100289473,SIRPA,PDYN,STK35,TGM3,TGM6,SNRPB,SNORD119,ZNF343,TMC2,NOP56,MIR1292,SNORD110,SNORA51,SNORD86,SNORD56,SNORD57,IDH3B,EBF4,CPXM1,C20orf141,TMEM239,FAM113A,VPS16,PTPRA,GNRH2,MRPS26,OXT,AVP,LOC100134015,UBOX5,FASTKD5,ProSAPiP1,DDRGK1,ITPA,SLC4A11,C20orf194,ATRN,GFRA4,ADAM33,SIGLEC1,HSPA12B,C20orf27,SPEF1,CENPB,CDC25B,C20orf29,MAVS,PANK2,MIR103A2,MIR103B2,RNF24,SMOX,LOC728228,ADRA1D,PRNP,PRND,PRNT,RASSF2,SLC23A2,C20orf30,PCNA,PCNA-AS1,CDS2,PROKR2,LOC100507629,LOC643406,LOC149837
No Animal Model Data Available