nsv435762
- 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:14,549
- 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: 199 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 199 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 53 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv435762 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 56,573,490 | 56,588,038 |
| nsv435762 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 56,607,518 | 56,622,066 |
| nsv435762 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 56,582,558 | 56,597,106 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv466001 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv466001 | Remapped | Perfect | NC_000003.12:g.(56 573490_?)_(?_56588 038)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 56,573,490 | 56,588,038 |
| nssv466001 | Remapped | Perfect | NC_000003.11:g.(56 607518_?)_(?_56622 066)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 56,607,518 | 56,622,066 |
| nssv466001 | Submitted genomic | NC_000003.10:g.(56 582558_?)_(?_56597 106)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 56,582,558 | 56,597,106 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv466001 | 4 | SAMN00000376 | PCR | Manual observation | Pass |