nsv192
- 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:19,546
- 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: 472 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 472 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv192 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 21,476,602 | 21,496,147 |
| nsv192 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 21,830,891 | 21,850,436 |
| nsv192 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 20,155,445 | 20,174,990 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv192 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv192 | Remapped | Perfect | NC_000022.11:g.(21 476602_?)_(?_21496 147)inv | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,476,602 | 21,496,147 |
| nssv192 | Remapped | Perfect | NC_000022.10:g.(21 830891_?)_(?_21850 436)inv | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 21,830,891 | 21,850,436 |
| nssv192 | Submitted genomic | NC_000022.8:g.(201 55445_?)_(?_201749 90)inv | NCBI35 (hg17) | NC_000022.8 | Chr22 | 20,155,445 | 20,174,990 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv192 | 4 | SAMN00000376 | BAC aCGH | Probe signal intensity | Pass |