nsv171
- 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:75,359
- 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: 442 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 443 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv171 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 8,749,927 | - | - | 8,825,285 |
| nsv171 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 8,860,564 | - | - | 8,935,961 |
| nsv171 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003871094.1 | Chr19|NW_0 03871094.1 | - | 195,028 | 245,473 | - |
| nsv171 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000019.8 | Chr19 | 8,721,564 | - | - | 8,796,961 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv171 | 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 | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv171 | Remapped | Good | NC_000019.10:g.(87 49927_?)_(?_882528 5)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 8,749,927 | - | - | 8,825,285 |
| nssv171 | Remapped | Pass | NW_003871094.1:g.( ?_195028)_(245473_ ?)del | GRCh37.p13 | First Pass | NW_003871094.1 | Chr19|NW_0 03871094.1 | - | 195,028 | 245,473 | - |
| nssv171 | Remapped | Perfect | NC_000019.9:g.(886 0564_?)_(?_8935961 )del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 8,860,564 | - | - | 8,935,961 |
| nssv171 | Submitted genomic | NC_000019.8:g.(872 1564_?)_(?_8796961 )del38879 | NCBI35 (hg17) | NC_000019.8 | Chr19 | 8,721,564 | - | - | 8,796,961 |