nsv7406
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:43,360
- Publication(s):Kidd et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 225 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 225 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7406 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 131,750,140 | 131,793,499 |
| nsv7406 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 131,434,899 | 131,478,258 |
| nsv7406 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 130,892,154 | 130,935,513 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv684 | Remapped | Perfect | NC_000007.14:g.(13 1750140_?)_(?_1317 93499)inv | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 131,750,140 | 131,793,499 |
| nssv684 | Remapped | Perfect | NC_000007.13:g.(13 1434899_?)_(?_1314 78258)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 131,434,899 | 131,478,258 |
| nssv684 | Submitted genomic | NC_000007.11:g.(13 0892154_?)_(?_1309 35513)inv | NCBI35 (hg17) | NC_000007.11 | Chr7 | 130,892,154 | 130,935,513 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv684 | 3 | NA19240 | Multiple complete digestion | MCD analysis | Pass |