nsv996066 - (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:10,995,962
- Description:FISH studies using probes within these intervals (18p subtelomere probe (Abbott Molecular), CTD-2268H10, CTD-2146G3, and RP11-113G19, respectively) as well as a partial chromosome study demonstrated the presence of two cell lines. One cell line contains a pseudodicentric chromosome 18 containing two copies of the entire 18 q-arm and one copy of part of the chromosome 18 p-arm. This result was observed in approximately 44% of cells. The second cell line contains a derivative chromosome 18 with loss of the majority of the p-arm and an extra copy of the q-arm from 18q12.3 to 18qter. This result was observed in approximately 56% of cells.. 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: nsv3910812
This variant has been obsoleted and is no longer valid.