CNVPANEL01
HUMAN VARIATION PANEL
Description:
Copy Number Variation (CNV) Reference Panel
Aliquot Size:
3 µg each
Brief Description:
Selected based on their relevance for cytogenetic diagnosis, the DNA samples in this panel have each been extracted from a cell line harboring a clinically significant chromosomal aberration. These samples have been identified and are being characterized in a collaborative effort involving the CDC's Genetic Testing Reference Materials Coordination Program (Get-RM), clinical cytogeneticists, microarray suppliers and the NIGMS Human Genetic Cell Repository. Data from the multiple laboratories involved in the project will be made available on the NIGMS Repository catalog web site. To date, Coriell has genotyped all samples on the Affymetrix Genome-Wide Human SNP Array 6.0 platform and performed G-banded karyotyping analysis and, in many cases, fluorescence in situ hybridization (FISH). The ISCN for each sample is listed, describing the results of G-banding and microarray analyses, and, when available, FISH. Additionally, Affymetrix Genome-Wide Human SNP Array 6.0 genotyping data for these samples is available from dbGaP (dbGaP Study Accession: phs000269.v1.p1).
The panel contains 3 µg DNA from each of 43 individual cell lines, normalized to a concentration of 100 µg/ml.
Click here to view the ISCN data for all samples in this panel.
| Nyaga DM, Tsai P, Gebbie C, Phua HH, Yap P, Le Quesne Stabej P, Farrow S, Rong J, Toldi G, Thorstensen E, Stark Z, Lunke S, Gamet K, Van Dyk J, Greenslade M, O'Sullivan JM, Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand NPJ genomic medicine9:57 2024 |
| PubMed ID: 39516456 |
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