nsv995298 - (obsolete)
- Organism: Homo sapiens
- Study:nstd37 (obsolete - ClinGen Laboratory-Submitted)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: Yes
- Region Size:36,706,397
- Description:Metaphase FISH studies using an X centromere probe as well as a probe for the XIST locus (Abbott Molecular) demonstrated the presence of a ring X that includes the XIST locus in 23 of 30 metaphase cells and 62.5% of nuclei from a PHA-stimulated culture, a. PLEASE NOTE: The calls represented in this region now have equivalents in the study Clinical Structural Variants (nstd102). Please use the preferred nstd102 variant region accession for this variant; you can find it at top right under "Links to Other Resources" or in the mapping file provided here.
- Publication(s):Miller et al. 2010
- Replacement Description: Replaced nstd37 variant regions with variants in [nstd102|/dbvar/studies/nstd102]
- Replacement Variant: nsv3903486
This variant has been obsoleted and is no longer valid.