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19p13.2-p13.11CNV Type: Duplication


Largest CNV size: N/A bp

Statistics Box:
Number of Reports: 2



Summary Information

A duplication with a minimum gene content of the UPF1 gene was identified in a case from a cohort of 57,365 individuals with a predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA) (Nguyen et al., 2013). However, because the exact start and end points of this duplication were not provided, its exact size and gene content cannot be determined.

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type

No Major Reports

Minor Reports

Title
Author, Year
Report Class
CNV Type
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 nebel_15_DD/ID_discovery_cases
 Cases from DECIPHER and other publications with overlapping events at the 19p13.12 locus
 16
 Cases presented with at least one of the following phenotypes: developmental delay, intellectual disability, microcephaly, or macrocephaly
 N/A
 50.00% Male
 2620000
 1
 0
 1
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 N/A
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 0
 3
 3

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 nebel_15_DD/ID_discovery_cases
  N/A
 N/A
  N/A
 
 
 N/A
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH
  SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
 
 
 N/A

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  nebel_15_DD/ID_discovery_cases-case2
 N/A
 F
 Microcephaly
 Case originally described in Gallant et al., 2011. Microcephaly
 N/A
 13789186
 16409189
  2620004
 GRCh38
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient227
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Duplication
 N/A

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  nguyen_13_DD/ID/MCA/ASD_discovery_controls-control48
  N/A
  N/A
  Control
  N/A
  N/A
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_controls-control49
  N/A
  N/A
  Control
  N/A
  N/A
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_controls-control50
  N/A
  N/A
  Control
  N/A
  N/A
  N/A
  N/A
  N/A
  GRCh37
  Duplication
  N/A

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 nebel_15_DD/ID_discovery_cases-case2
 CNV validation N/A
 
 De novo
 
 
 RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,ADGRE3,OR10H2
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient227
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: UPF1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control48
 
 
  Unknown
  Unknown
 
  Minimum CNV gene content: UPF1
 
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control49
 
 
  Unknown
  Unknown
 
  Minimum CNV gene content: UPF1
 
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control50
 
 
  Unknown
  Unknown
 
  Minimum CNV gene content: UPF1
 

No Animal Model Data Available
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