nsv436704
- 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:11,495
- 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: 111 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 23 SVs from 12 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv436704 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 50,888,612 | - | 50,900,106 |
| nsv436704 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | - | 50,924,188 | 50,934,330 |
| nsv436704 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 50,901,050 | - | 50,912,558 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv466000 | 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 Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv466000 | Remapped | Good | NC_000003.12:g.(50 888612_?)_(?_50900 106)inv | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 50,888,612 | - | 50,900,106 |
| nssv466000 | Remapped | Pass | NC_000003.11:g.(?_ 50924188)_(?_50934 330)inv | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | - | 50,924,188 | 50,934,330 |
| nssv466000 | Submitted genomic | NC_000003.10:g.(50 901050_?)_(?_50912 558)inv | NCBI36 (hg18) | NC_000003.10 | Chr3 | 50,901,050 | - | 50,912,558 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv466000 | 4 | SAMN00001583 | PCR | Manual observation | Pass |