nsv13
- 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:31,837
- 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: 738 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 441 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv13 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 146,081,240 | 146,113,076 |
| nsv13 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 145,325,096 | 145,356,966 |
| nsv13 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 142,814,140 | 142,846,010 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv13 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv13 | Remapped | Good | NC_000001.11:g.(14 6081240_?)_(?_1461 13076)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 146,081,240 | 146,113,076 |
| nssv13 | Remapped | Perfect | NC_000001.10:g.(14 5325096_?)_(?_1453 56966)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,325,096 | 145,356,966 |
| nssv13 | Submitted genomic | NC_000001.8:g.(142 814140_?)_(?_14284 6010)del20356 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 142,814,140 | 142,846,010 |