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nsv916606 - (obsolete)

  • 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:97,243,355
  • Description:mosaic: FISH - 12.5% of interphase nuclei from a PHA-stimulated culture as well as 12.0% of interphase nuclei from a direct preparation. A limited chromosome study focusing on chromosome 9 confirmed that of 50 metaphases, 1 was trisomy 9 and the remaining 49 metaphases had two normal chromosomes 9 and an additional copy of chromosome 9 containing the entire p-arm, centromere, and only the qh region of the q-arm. Therefore, the net result is duplication of 9pter to 9q12 in the majority of cells, and whole chromosome trisomy 9 in a small percentage of cells. Phenotype: IUGR, positional abnormality of the left foot, low-set ears, clinodactyly, palmar crease, heart murmur, prematurity. 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: nsv3915973
This variant has been obsoleted and is no longer valid.
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