nsv995712 - (obsolete)
- Organism: Homo sapiens
- Study:nstd37 (obsolete - ClinGen Laboratory-Submitted)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: Yes
- Region Size:13,905,784
- Description:Interphase and metaphase FISH studies using probes within the duplicated intervals (RP11-47L4 and CTD-2318F22, respectively) confirmed these duplications and demonstrated that they are both located on a supernumerary marker chromosome. Therefore, a partial chromosome study was performed, which suggests that this marker chromosome is a derivative chromosome 13 from a 10;13 translocation that was likely inherited due to 3:1 meiotic segregation.. 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: nsv3924720
This variant has been obsoleted and is no longer valid.