nsv817290 - (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:553,536
- Description:array CGH profile suggests this duplication may be present in a mosaic form. Interphase FISH studies using a probe within the duplicated interval (RP11-63N8) confirmed this duplication in 43.5% of interphase nuclei from a PHA-stimulated culture as well as in 41.5% of interphase nuclei from a direct unstimulated sample. Phenotype: generalized convulsive epilepsy. 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: nsv3904455
This variant has been obsoleted and is no longer valid.