nsv471363
- Organism: Homo sapiens
- Study:nstd31 (Alkan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:938
- Description:OR4P4
- Publication(s):Alkan 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: 2006 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2013 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 639 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv471363 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 55,638,358 | 55,639,295 |
| nsv471363 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 55,405,834 | 55,406,771 |
| nsv471363 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 55,162,410 | 55,163,347 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv548074 | copy number loss | JDW | Sequencing | Read depth | 1 | 198 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv548074 | Remapped | Perfect | NC_000011.10:g.(55 638358_?)_(?_55639 295)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,638,358 | 55,639,295 |
| nssv548074 | Remapped | Perfect | NC_000011.9:g.(554 05834_?)_(?_554067 71)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,405,834 | 55,406,771 |
| nssv548074 | Submitted genomic | NC_000011.8:g.(551 62410_?)_(?_551633 47)del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 55,162,410 | 55,163,347 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv548074 | 4 | JDW | Oligo aCGH | Probe signal intensity | Pass |