nsv154
- 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:Yes
- Clinical Assertions: No
- Region Size:44,047
- 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: 255 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 255 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 13 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv154 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 11,313,938 | 11,357,984 |
| nsv154 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 11,217,255 | 11,261,301 |
| nsv154 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000017.9 | Chr17 | 11,157,980 | 11,202,026 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv154 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv154 | Remapped | Perfect | NC_000017.11:g.(11 313938_?)_(?_11357 984)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 11,313,938 | 11,357,984 |
| nssv154 | Remapped | Perfect | NC_000017.10:g.(11 217255_?)_(?_11261 301)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 11,217,255 | 11,261,301 |
| nssv154 | Submitted genomic | NC_000017.9:g.(111 57980_?)_(?_112020 26)del11860 | NCBI35 (hg17) | NC_000017.9 | Chr17 | 11,157,980 | 11,202,026 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv154 | 3 | SAMN00000376 | PCR | Manual observation | Pass |
| nssv154 | 2 | SAMN00000376 | Sequencing | Sequence alignment | Pass |