ID

44987

Description

Principal Investigator: Judith H. Greenberg, PhD, National Institute of General Medical Sciences, National Institutes of Health, Bethesda, MD, USA MeSH: Chromosome Disorders https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000269 As part of an effort to correlate molecular copy number variation determinations with state of the art karyotype analyses, 716 samples derived from 697 individuals from the Chromosomal Aberrations and Inherited Disorders collections of the NIGMS Human Genetic Cell Repository were genotyped and analyzed for CNV determination by the Microarray Center at the Coriell Institute for Medical Research. Karyotyping is performed on all cell cultures in the Repository with reported chromosome abnormalities. The samples chosen for genotyping in this study are intended to represent a diverse set of copy number variants, but the selection was also weighted to over-sample commonly manifested types of aberrations. When available, the ISCN description of the sample based on G-banding and FISH analysis is included in the phenotypic data. Karyotypes for these cells can be viewed in the online Repository catalog (http://ccr.coriell.org/Sections/Collections/NIGMS/?SsId=8).

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000269

Keywords

  1. 6/20/22 6/20/22 - Dr. Christian Niklas
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

Judith H. Greenberg, PhD

Uploaded on

June 20, 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000269 Genotyping NIGMS Chromosomal Aberration and Inherited Disorder Samples

Sample ID, subject ID, and sample sources of participants with chromosomal aberrations.

pht001497
Description

pht001497

Subject ID
Description

SUBJID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Description

SAMPID

Data type

string

Alias
UMLS CUI [1,1]
C1299222
Source repository where samples originate [Coriell]
Description

SAMP_SOURCE

Data type

string

Alias
UMLS CUI [1,1]
C0449416
UMLS CUI [1,2]
C3847505
Sample ID used in the Source Repository
Description

SOURCE_SAMPID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C3847505

Similar models

Sample ID, subject ID, and sample sources of participants with chromosomal aberrations.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht001497
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
SAMP_SOURCE
Item
Source repository where samples originate [Coriell]
string
C0449416 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
SOURCE_SAMPID
Item
Sample ID used in the Source Repository
string
C2348585 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,3])

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