nsv3109846 - (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:5,184,409
- Description:Phenotype: lack of normal physiological development, convulsions, dysmorphic facial features, cerebral palsy, epilepsy, triangular face, upslanting palpebral fissures, straight eye brows, ears slightly pointed, HC 49.5 which is low normal, nonverbal. 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: nsv3911622
This variant has been obsoleted and is no longer valid.