nsv436419
- Organism: Homo sapiens
- Study:nstd16 (Korbel et al. 2007)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:16,881
- Publication(s):Korbel et al. 2007
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: 323 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 323 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv436419 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 163,883,187 | 163,900,067 |
| nsv436419 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 164,804,339 | 164,821,219 |
| nsv436419 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 165,023,789 | 165,040,669 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv466164 | deletion | SAMN00001583 | Sequencing | Paired-end mapping | 822 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv466164 | Remapped | Perfect | NC_000004.12:g.(16 3883187_?)_(?_1639 00067)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 163,883,187 | 163,900,067 |
| nssv466164 | Remapped | Perfect | NC_000004.11:g.(16 4804339_?)_(?_1648 21219)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 164,804,339 | 164,821,219 |
| nssv466164 | Submitted genomic | NC_000004.10:g.(16 5023789_?)_(?_1650 40669)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 165,023,789 | 165,040,669 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv466164 | 4 | SAMN00001583 | PCR | Manual observation | Pass |