nsv492307 - (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:2,075,715
- Description:Mosaic: deletion in 67% of metaphases and 62% of interphase nuclei from a PHA-stimulated culture as well as 66% of interphase nuclei from a direct unstimulated sample. mosaic t(1;11)(p35.3;p15.5). Phenotype: dysmorphism, speech delay, hyperactivity, family history of mental retardation. 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: nsv3922910
This variant has been obsoleted and is no longer valid.