nsv188
- Organism: Homo sapiens
- Study:nstd1 (Tuzun et al. 2005)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,481
- 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: 723 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 338 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv188 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 48,502,430 | 48,519,910 |
| nsv188 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 47,130,676 | 47,136,448 |
| nsv188 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000020.9 | Chr20 | 46,564,083 | 46,569,855 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv188 | insertion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv188 | Remapped | Pass | NC_000020.11:g.(48 502430_?)_(?_48519 910)ins12214 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,502,430 | 48,519,910 |
| nssv188 | Remapped | Perfect | NC_000020.10:g.(47 130676_?)_(?_47136 448)ins12214 | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 47,130,676 | 47,136,448 |
| nssv188 | Submitted genomic | NC_000020.9:g.(465 64083_?)_(?_465698 55)ins12214 | NCBI35 (hg17) | NC_000020.9 | Chr20 | 46,564,083 | 46,569,855 |