nsv513298
- Organism: Homo sapiens
- Study:nstd50 (Arlt et al. 2011)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,363
- Publication(s):Arlt et al. 2011
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: 299 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 299 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv513298 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 8,337,068 | 8,341,430 |
| nsv513298 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 8,337,301 | 8,341,663 |
| nsv513298 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 8,282,300 | 8,286,662 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv626808 | copy number loss | 1 | Sequencing | Paired-end mapping | 2,637 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv626808 | Remapped | Perfect | NC_000006.12:g.(83 37068_?)_(?_834143 0)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 8,337,068 | 8,341,430 |
| nssv626808 | Remapped | Perfect | NC_000006.11:g.(83 37301_?)_(?_834166 3)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 8,337,301 | 8,341,663 |
| nssv626808 | Submitted genomic | NC_000006.10:g.(82 82300_?)_(?_828666 2)del4363 | NCBI36 (hg18) | NC_000006.10 | Chr6 | 8,282,300 | 8,286,662 |