nsv50
- 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:29,754
- 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: 249 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 249 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv50 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 6,351,101 | 6,380,854 |
| nsv50 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 6,393,063 | 6,422,816 |
| nsv50 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000010.8 | Chr10 | 6,433,069 | 6,462,822 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv50 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv50 | Remapped | Perfect | NC_000010.11:g.(63 51101_?)_(?_638085 4)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 6,351,101 | 6,380,854 |
| nssv50 | Remapped | Perfect | NC_000010.10:g.(63 93063_?)_(?_642281 6)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 6,393,063 | 6,422,816 |
| nssv50 | Submitted genomic | NC_000010.8:g.(643 3069_?)_(?_6462822 )del10610 | NCBI35 (hg17) | NC_000010.8 | Chr10 | 6,433,069 | 6,462,822 |