nsv1067862 - (obsolete)
- Organism: Homo sapiens
- Study:nstd51 (obsolete - User submitted curated variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:57,232
- Data Source:Published variants curated by OMIM and GeneReviews and reviewed by NCBI staff
- Description:The breakpoints on Chr 17 were determined by aligning the segment of AF168787 defining the deletion to GRCh37. 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):Anikster et al. 2000, Bendavid et al. 2004, Gahl et al. 2002, Macías-Vidal et al. 2009, Nesterova et al. 2001, Shotelersuk et al. 1998, Touchman et al. 2000, Town et al. 1998, Wamelink et al. 2008
- Replacement Description: Replaced nstd51 variant regions with variants in [nstd102|/dbvar/studies/nstd102]
- Replacement Variant: nsv3889197
- ClinVar: SCV000024871
- ClinVar: SCV000024872
- ClinVar: SCV000024873
- ClinVar: SCV000058483
- GeneReviews: NBK1400
- MedGen: C0010690
- MedGen: C0268626
- MedGen: C1857413
- OMIM: 606272.0005
- PubMed: 10625078
- PubMed: 10673275
- PubMed: 12110740
- PubMed: 15365816
- PubMed: 18186520
- PubMed: 19863563
- PubMed: 20301574
- PubMed: 9537412
- PubMed: 9792862
- dbVar: nssv15119662
- dbVar: nssv15120126
- dbVar: nssv15146057
- dbVar: nsv4346419
- Overlapping Genes
Source: NCBI
This variant has been obsoleted and is no longer valid.