HELP     Sign In

19p13CNV Type: Deletion


Largest CNV size: 384324 bp

Statistics Box:
Number of Reports: 1



Summary Information

CNVs at this locus contain at least part of the C19orf19 (also known as ODF3L2) and MADCAM1 genes. However, the precise breakpoints of these CNVs were not provided.

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
Deletion

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
 bucan_09_ASD_discovery_cases
 Individuals from 912 multiplex families (AGRE cohort)
 3832
 ASD
 
 
 187147
 3
 0
 3
 bucan_09_ASD_replication_cases
 Unrelated ASD patients (ACC cohort). 54% simplex, 46% multiplex
 859
 828 diagnosed with autism, 31 with other ASDs
 Range, 2-21
 81.8% Male
 384324
 8
 0
 8

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bucan_09_ASD_discovery_controls
 1070 healthy children (CHOP), 418 neurologically normal adults and seniors (NINDS control collection)
 1488
 Controls
 
 
 187147
 0
 0
 0
 bucan_09_ASD_replication_controls
 Children of Caucasian ancestry with no history of ASDs (CHOP)
 1051
 Controls
 
 
 187147
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 bucan_09_ASD_discovery_cases
 
 Solid phase hybridization
  HumanHap550 V3
 Penn CNV
 
 qPCR
 bucan_09_ASD_replication_cases
  European
 Solid phase hybridization
  HumanHap550 V3
 Penn CNV
 
 qPCR

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  bucan_09_ASD_discovery_controls
  European
  Solid phase hybridization
  HumanHap550 V3
  Penn CNV
 
 
  bucan_09_ASD_replication_controls
  European
  Solid phase hybridization
  HumanHap550 V3
  Penn CNV
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  bucan_09_ASD_discovery_cases-patient77
 NA
 
 ASD
 NA
 NA
 
 
  100187
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient78
 NA
 
 ASD
 NA
 NA
 
 
  171989
 Unknown
 Deletion
 Yes
  bucan_09_ASD_discovery_cases-patient79
 NA
 
 ASD
 NA
 NA
 
 
  187147
 Unknown
 Deletion
 Yes
  bucan_09_ASD_replication_cases-patient23
 NA
 
 ASD
 NA
 NA
 
 
  98264
 Unknown
 Deletion
 Yes
  bucan_09_ASD_replication_cases-patient24
 NA
 
 ASD
 NA
 NA
 
 
  103788
 Unknown
 Deletion
 Yes
  bucan_09_ASD_replication_cases-patient25
 NA
 
 ASD
 NA
 NA
 
 
  277715
 Unknown
 Deletion
 Yes
  bucan_09_ASD_replication_cases-patient26
 NA
 
 ASD
 NA
 NA
 
 
  280201
 Unknown
 Deletion
 Yes
  bucan_09_ASD_replication_cases-patient27
 NA
 
 ASD
 NA
 NA
 
 
  292525
 Unknown
 Deletion
 Yes
  bucan_09_ASD_replication_cases-patient28
 NA
 
 ASD
 NA
 NA
 
 
  294446
 Unknown
 Deletion
 Yes
  bucan_09_ASD_replication_cases-patient29
 NA
 
 ASD
 NA
 NA
 
 
  344224
 Unknown
 Deletion
 Yes
  bucan_09_ASD_replication_cases-patient30
 NA
 
 ASD
 NA
 NA
 
 
  384324
 Unknown
 Deletion
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 bucan_09_ASD_discovery_cases-patient77
 qPCR
 
 Unknown
 NA
 NA
 C19orf19, MADCAM1
 
 bucan_09_ASD_discovery_cases-patient78
 qPCR
 
 Unknown
 NA
 NA
 C19orf19, MADCAM1
 
 bucan_09_ASD_discovery_cases-patient79
 qPCR
 
 Unknown
 NA
 NA
 C19orf19, MADCAM1
 
 bucan_09_ASD_replication_cases-patient23
 qPCR
 
 Unknown
 NA
 NA
 C19orf19, MADCAM1
 
 bucan_09_ASD_replication_cases-patient24
 qPCR
 
 Unknown
 NA
 NA
 C19orf19, MADCAM1
 
 bucan_09_ASD_replication_cases-patient25
 qPCR
 
 Unknown
 NA
 NA
 C19orf19, MADCAM1
 
 bucan_09_ASD_replication_cases-patient26
 qPCR
 
 Unknown
 NA
 NA
 C19orf19, MADCAM1
 
 bucan_09_ASD_replication_cases-patient27
 qPCR
 
 Unknown
 NA
 NA
 C19orf19, MADCAM1
 
 bucan_09_ASD_replication_cases-patient28
 qPCR
 
 Unknown
 NA
 NA
 C19orf19, MADCAM1
 
 bucan_09_ASD_replication_cases-patient29
 qPCR
 
 Unknown
 NA
 NA
 C19orf19, MADCAM1
 
 bucan_09_ASD_replication_cases-patient30
 qPCR
 
 Unknown
 NA
 NA
 C19orf19, MADCAM1
 

Controls

No Control Data Available
No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.