nsv869244 - (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:2,058,745
- Description:supernumerary ring chromosome derived from chromosome 6. Phenotype: multiple congenital anomalies, multiple toes, nasal cleft, anterior cleft, hypertelorism, tag defect upper inner canthus, high arched palate, short 2nd metatarsal, bilateral 4th metatarsal anomaly. 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: nsv3912951
This variant has been obsoleted and is no longer valid.