nsv7315
- 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:38,812
- 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: 196 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7315 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 85,497,488 | 85,536,299 |
| nsv7315 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 85,724,611 | 85,763,422 |
| nsv7315 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 85,636,269 | 85,675,080 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1511 | Remapped | Perfect | NC_000002.12:g.(85 497488_?)_(?_85536 299)inv | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 85,497,488 | 85,536,299 |
| nssv1511 | Remapped | Perfect | NC_000002.11:g.(85 724611_?)_(?_85763 422)inv | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 85,724,611 | 85,763,422 |
| nssv1511 | Submitted genomic | NC_000002.9:g.(856 36269_?)_(?_856750 80)inv | NCBI35 (hg17) | NC_000002.9 | Chr2 | 85,636,269 | 85,675,080 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv1511 | 3 | NA19240 | Multiple complete digestion | MCD analysis | Pass |