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
Versions (2)
- 6/20/22 6/20/22 - Dr. Christian Niklas
- 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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