nsv292
- Organism: Homo sapiens
- Study:nstd1 (Tuzun et al. 2005)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:61,010
- Publication(s):Tuzun et al. 2005
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 257 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 257 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv292 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 48,870,534 | 48,931,543 |
| nsv292 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 48,910,130 | 48,971,139 |
| nsv292 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 48,687,391 | 48,748,400 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv292 | inversion | SAMN00000376 | Sequencing | Paired-end mapping | 297 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv292 | Remapped | Perfect | NC_000007.14:g.(48 870534_?)_(?_48931 543)inv | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,870,534 | 48,931,543 |
| nssv292 | Remapped | Perfect | NC_000007.13:g.(48 910130_?)_(?_48971 139)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,910,130 | 48,971,139 |
| nssv292 | Submitted genomic | NC_000007.11:g.(48 687391_?)_(?_48748 400)inv | NCBI35 (hg17) | NC_000007.11 | Chr7 | 48,687,391 | 48,748,400 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv292 | 2 | SAMN00000376 | Sequencing | Sequence alignment | Pass |