nsv435948
- 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:109,099
- 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: 165 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 349 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv435948 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NT_113796.3 | Chr14|NT_1 13796.3 | - | 2 | 109,100 |
| nsv435948 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 143,280,565 | - | 143,451,916 |
| nsv435948 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 142,122,088 | - | 142,293,439 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv466750 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv466750 | Remapped | Pass | NT_113796.3:g.(?_2 )_(?_109100)inv | GRCh38.p12 | First Pass | NT_113796.3 | Chr14|NT_1 13796.3 | - | 2 | 109,100 |
| nssv466750 | Remapped | Perfect | NC_000001.10:g.(14 3280565_?)_(?_1434 51916)inv | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 143,280,565 | - | 143,451,916 |
| nssv466750 | Submitted genomic | NC_000001.9:g.(142 122088_?)_(?_14229 3439)inv | NCBI36 (hg18) | NC_000001.9 | Chr1 | 142,122,088 | - | 142,293,439 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv466750 | 4 | SAMN00000376 | PCR | Manual observation | Pass |