nsv817525 - (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:18,324,990
- Description:structurally abnormal 11. Phenotype: fine motor delay, gross motor delay, speech delay, mental retardation, seizures, ASD (resolved), PDA, dysmorphic facial features, hip dysplasia, kidney malformation, undescended testis, hypertension, previous 46,XY,inv dup(11)(q25q23) karyotype found. 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: nsv3912905
This variant has been obsoleted and is no longer valid.