12q131q15

12q13.1-q15 is a cytogenetic interval on the long arm (q) of chromosome 12. In standard chromosomal nomenclature, it is described as 12q13.1–q15 and denotes a defined region within the q arm, with exact coordinates varying by genome reference (for example GRCh37 or GRCh38). The interval spans several chromosomal bands and represents a stretch of DNA that includes multiple genes and regulatory elements.

Location and content

The region lies on chromosome 12q, extending from band 12q13.1 to 12q15. Its physical size is measured in megabases and depends on the genome build used. A variety of gene loci and non-coding sequences reside in this interval, contributing to diverse biological functions. Gene content can differ between genome assemblies, so precise listings are found in genome browsers and reference databases.

Clinical and research relevance

Structural variations involving 12q13.1–q15, such as deletions, duplications, inversions, or translocations, have been described in clinical reports and research studies. Associations with developmental disorders, congenital anomalies, and certain cancers have been investigated, but the clinical impact of any given alteration depends on the exact breakpoints, size, and affected genes. As with other genomic intervals, interpretation relies on comprehensive genetic testing data and careful consideration of the patient’s phenotype.

Methods and resources

Detection and characterization of variations in this region use techniques such as karyotyping, fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH), and targeted or whole-genome sequencing. For detailed gene content and coordinates, consult genome browsers and databases (e.g., Ensembl, UCSC Genome Browser, OMIM).