nsv435978
- 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:6,912
- 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: 159 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 66 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv435978 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | - | 80,454,446 | 80,461,357 |
| nsv435978 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 80,848,820 | - | 80,859,012 |
| nsv435978 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 79,372,951 | - | 79,383,143 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv466718 | inversion | SAMN00000376 | Sequencing | Paired-end mapping | 468 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv466718 | Remapped | Pass | NC_000012.12:g.(?_ 80454446)_(?_80461 357)inv | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | - | 80,454,446 | 80,461,357 |
| nssv466718 | Remapped | Perfect | NC_000012.11:g.(80 848820_?)_(?_80859 012)inv | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 80,848,820 | - | 80,859,012 |
| nssv466718 | Submitted genomic | NC_000012.10:g.(79 372951_?)_(?_79383 143)inv | NCBI36 (hg18) | NC_000012.10 | Chr12 | 79,372,951 | - | 79,383,143 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv466718 | 4 | SAMN00000376 | PCR | Manual observation | Pass |