nsv435755
- 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:54,429
- 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: 319 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 319 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv435755 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 192,218,493 | 192,272,921 |
| nsv435755 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 191,936,282 | 191,990,710 |
| nsv435755 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 193,418,976 | 193,473,404 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv466053 | deletion | SAMN00000376 | Sequencing | Paired-end mapping | 468 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv466053 | Remapped | Perfect | NC_000003.12:g.(19 2218493_?)_(?_1922 72921)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,218,493 | 192,272,921 |
| nssv466053 | Remapped | Perfect | NC_000003.11:g.(19 1936282_?)_(?_1919 90710)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 191,936,282 | 191,990,710 |
| nssv466053 | Submitted genomic | NC_000003.10:g.(19 3418976_?)_(?_1934 73404)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 193,418,976 | 193,473,404 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv466053 | 4 | SAMN00000376 | PCR | Manual observation | Pass |