nsv996242 - (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:66,193,966
- Description:monosomy X in 10-20% of cells and an abnormal X chromosome with an inverted duplication from Xq12 to Xq21.1 followed by a terminal deletion from Xq21.1 to Xq28 in 80-90% 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: nsv3891943
This variant has been obsoleted and is no longer valid.