Note: lifted from hg19.
The Coriell Cell Line Copy Number Variants track displays
copy-number variants (CNVs) in chromosomal aberration and inherited disorder
cell lines in the NIGMS Human Genetic Cell Repository. The Repository,
sponsored by the National Institute of General Medical Sciences, provides
scientists around the world with resources for cell and genetic research.
The samples include highly characterized cell lines and high quality DNA.
NIGMS Repository samples represent a variety of disease states, chromosomal
abnormalities, apparently healthy individuals and many distinct human
Approximately 1000 samples from the Chromosomal Aberrations and Heritable
Diseases collections of the NIGMS Repository were genotyped on the Affymetrix
Genome-Wide Human SNP 6.0 Array and analyzed for CNVs at the Coriell Institute
for Medical Research. Genotyping data for many of these samples is available
The genotyped samples represent a diverse set of copy-number variants. The
selection was weighted to over-sample commonly manifested types of aberrations.
Karyotyping was performed on all NIGMS Repository cell lines that were
submitted with reported chromosome abnormalities. 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.
Field definitions for an item description:
- CN State: Copy Number of the imbalance. Note that all CNVs with
a copy number of 2 are colored neutral (black) and occur on the sex
chromosomes, where a CN State of 2 should not be interpreted
as normal, as it would be on an autosome.
- Cell Type: Type of cell culture; one of the following:
B Lymphocyte, Fibroblast, Amniotic fluid-derived cell line or
Chorionic villus-derived cell line.
- Description (Diagnosis): May be a medical diagnosis,
such as "albinism" or a chromosomal phenotype, such as
"translocation" or other description.
- ISCN nomenclature: A description of the chromosomal
karyotype in formal ISCN nomenclature.
CN State item coloring:
Use the score filter limits on the configuration page
to select desired CN States.
- CN State 0 == score 0
- CN State 1 == score 100
- CN State 2 == score 200
- CN State 3 == score 300
- CN State 4 == score 400
We thank Dorit Berlin and Zhenya Tang of the NIGMS Human Genetic Cell
Repository at the
Coriell Institute for Medical
Research for these data.
Genotyping NIGMS Chromosomal Aberration and Inherited Disorder Samples.
NIGMS Human Genetic Cell Repository
online catalog at the Coriell Institute for Medical Research.