nsv467253
- Organism: Homo sapiens
- Study:nstd27 (Itsara et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:253,399
- Publication(s):Itsara et al. 2009
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1065 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1065 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 52 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv467253 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 55,279,302 | 55,532,700 |
| nsv467253 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 57,039,062 | 57,292,460 |
| nsv467253 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000010.8 | Chr10 | 56,709,068 | 56,962,466 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv542592 | copy number loss | HGDP01260 | SNP array | SNP genotyping analysis | 1 | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv542592 | Remapped | Perfect | NC_000010.11:g.(?_ 55279302)_(5553270 0_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 55,279,302 | 55,532,700 |
| nssv542592 | Remapped | Perfect | NC_000010.10:g.(?_ 57039062)_(5729246 0_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 57,039,062 | 57,292,460 |
| nssv542592 | Submitted genomic | NC_000010.8:g.(?_5 6709068)_(56962466 _?)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 56,709,068 | 56,962,466 |