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nsv931639 - (obsolete)

  • 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:15,038,781
  • Description:Metaphase FISH studies demonstrated the presence of a supernumerary isochromosome containing two copies of the 18 p-arm, resulting in tetrasomy 18p in 18 of 30 metaphases and 57.5% of interphase nuclei from a PHA-stimulated culture, as well as 57.0% of in. 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: nsv3915279
This variant has been obsoleted and is no longer valid.
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