nsv436670
- Organism: Homo sapiens
- Study:nstd16 (Korbel et al. 2007)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:11,956
- Publication(s):Korbel et al. 2007
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 210 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 210 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 16 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 Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv436670 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 233,565,880 | 233,577,835 | - |
| nsv436670 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 234,474,526 | - | 234,487,939 |
| nsv436670 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 234,134,660 | - | 234,148,073 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv465975 | inversion | SAMN00001583 | Sequencing | Paired-end mapping | 822 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv465975 | Remapped | Pass | NC_000002.12:g.(23 3565880_?)_(233577 835_?)inv | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 233,565,880 | 233,577,835 | - |
| nssv465975 | Remapped | Perfect | NC_000002.11:g.(23 4474526_?)_(?_2344 87939)inv | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 234,474,526 | - | 234,487,939 |
| nssv465975 | Submitted genomic | NC_000002.10:g.(23 4134660_?)_(?_2341 48073)inv | NCBI36 (hg18) | NC_000002.10 | Chr2 | 234,134,660 | - | 234,148,073 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv465975 | 4 | SAMN00001583 | PCR | Manual observation | Pass |