nsv253
- Organism: Homo sapiens
- Study:nstd1 (Tuzun et al. 2005)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:39,937
- Publication(s):Tuzun et al. 2005
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1040 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1040 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 23 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv253 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 10,196,999 | 10,236,935 |
| nsv253 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 10,198,623 | 10,238,559 |
| nsv253 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 9,874,892 | 9,914,828 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv253 | deletion | SAMN00000376 | Sequencing | Paired-end mapping | 297 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv253 | Remapped | Perfect | NC_000004.12:g.(10 196999_?)_(?_10236 935)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,196,999 | 10,236,935 |
| nssv253 | Remapped | Perfect | NC_000004.11:g.(10 198623_?)_(?_10238 559)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 10,198,623 | 10,238,559 |
| nssv253 | Submitted genomic | NC_000004.9:g.(987 4892_?)_(?_9914828 )del22358 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 9,874,892 | 9,914,828 |