nsv916874 - (obsolete)
- Organism: Homo sapiens
- Study:nstd37 (obsolete - ClinGen Laboratory-Submitted)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: Yes
- Region Size:93,291,024
- Description:an isochromosome Xq in addition to a structurally normal chromosome X in 19 of 20 metaphases, while one metaphase was 45,X. Additional FISH studies using a probe at Xq13.2 (XIST) confirmed a monosomy X cell line in 12.5% of interphase nuclei from a direct preparation. 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: nsv3906110
This variant has been obsoleted and is no longer valid.