nsv7185
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:39,052
- Publication(s):Kidd et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 247 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 250 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7185 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 172,716,549 | 172,755,600 |
| nsv7185 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 172,685,689 | 172,724,740 |
| nsv7185 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 169,417,346 | 169,456,397 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3511 | Remapped | Perfect | NC_000001.11:g.(17 2716549_?)_(?_1727 55600)inv | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 172,716,549 | 172,755,600 |
| nssv3511 | Remapped | Perfect | NC_000001.10:g.(17 2685689_?)_(?_1727 24740)inv | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 172,685,689 | 172,724,740 |
| nssv3511 | Submitted genomic | NC_000001.8:g.(169 417346_?)_(?_16945 6397)inv | NCBI35 (hg17) | NC_000001.8 | Chr1 | 169,417,346 | 169,456,397 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv3511 | 3 | NA12878 | Multiple complete digestion | MCD analysis | Pass |