The 12-sample HumanCytoSNP-12 BeadChip is a powerful, whole-genome scanning panel designed for efficient, high-throughput analysis of genetic and structural variations that are the most relevant to human disease. It offers substantially better resolution to detect smaller regions than FISH or CGH. Studies can achieve average SNP call rates and reproducibility of >99%, and low noise for copy number measurements. Many types and sizes of structural variation in the human genome that affect phenotypes can be detected with the HumanCytoSNP-12 BeadChip, including duplications, deletions, amplifications, copy-neutral LOH, and mosaicism.
The HumanCytoSNP-12 BeadChip includes a complete panel of genome-wide tag SNPs and markers targeting all regions of known cytogenetic importance. 220,000 markers provide useful content for cytogenetic analysis. This includes dense coverage of around 250 genomic regions commonly screened in cytogenetics laboratories, including subtelomeric regions, pericentromeric regions, sex chromosomes, and targeted coverage in around 400 additional disease-related genes.
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*Please see the Data Sheet for additional product specifications | |||
Specifications | |||
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Number of Fixed Markers | 299,140 | Available Custom Markers, max. | N/A |
Number of Samples | 12 | Spacing (kb) | Mean/Median 9.7 / 6.2 |
DNA Requirement | 200 ng | Number of SNPs within 10 kb of RefSeq genes | 148,987 |
Assay | Infinium HD Ultra | Number of Nonsynonymous SNPs (NCBI annotated) | 2,420 |
Number of MHC/ADME markers | 760 / 2,388 | FFPE Compatible | Yes |
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