nsv869387 - (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:17,867,981
- Description:Phenotype: micropenis, undescended testicles, small ears, hypertonia, small subdermal hematoma, 46,XY,der(2)t(2;3)(q31;q27),der(3)del(3)(q13.2q21)t(2;3),inv(5)(p13.3q15). 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: nsv3910775
This variant has been obsoleted and is no longer valid.