nsv471778
- Organism: Homo sapiens
- Study:nstd34 (Hinds et al. 2005)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:1,795
- Publication(s):Hinds et al. 2005
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: 276 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 276 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv471778 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 44,239,954 | 44,241,748 |
| nsv471778 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 44,467,093 | 44,468,887 |
| nsv471778 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 44,378,744 | 44,380,538 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv646059 | copy number loss | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv646059 | Remapped | Perfect | NC_000002.12:g.442 39954_44241748del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 44,239,954 | 44,241,748 |
| nssv646059 | Remapped | Perfect | NC_000002.11:g.444 67093_44468887del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 44,467,093 | 44,468,887 |
| nssv646059 | Submitted genomic | NC_000002.9:g.4437 8744_44380538del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 44,378,744 | 44,380,538 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv646059 | 2 | PCR | Manual observation | Pass |