nsv529498 - (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:6,409,042
- Description:der(13)t(13;22)(q34;p11.2)pat; sister has 6.8mb del at 13q33.3-34/ 942kb del at 6p12.1-p12.2/ 304kb del at 9p23. She has significant DD, microcephaly with metopic prominence, broad nasal root with depressed nasal bridge, low tone, limited speech with computer aids, mild ortho issues-scoliosis (wears AFOs), and either PFO or PDA. Phenotype: microcephaly, MCA, DD, seizures, characterize chromosome abnormality (13q- and possible 6p-). 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: nsv3921224
This variant has been obsoleted and is no longer valid.