nsv436303
- 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:18,028
- 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: 556 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 556 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 372 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv436303 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 179,200,610 | 179,218,637 |
| nsv436303 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 180,065,337 | 180,083,364 |
| nsv436303 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 179,773,582 | 179,791,609 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv465960 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv465960 | Remapped | Perfect | NC_000002.12:g.(17 9200610_?)_(?_1792 18637)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,200,610 | 179,218,637 |
| nssv465960 | Remapped | Perfect | NC_000002.11:g.(18 0065337_?)_(?_1800 83364)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,065,337 | 180,083,364 |
| nssv465960 | Submitted genomic | NC_000002.10:g.(17 9773582_?)_(?_1797 91609)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,773,582 | 179,791,609 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv465960 | 4 | SAMN00001583 | PCR | Manual observation | Pass |