nsv473319
- Organism: Homo sapiens
- Study:nstd35 (Kidd et al. 2010)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:1
- Description:OEA singleton. The coordinate provided is from the mappable member of a fosmid end sequence pair, and indicates the genomic vicinity of a novel sequence insertion
- Publication(s):Kidd et al. 2010
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 135 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 1 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv473319 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 139,654,276 | 139,654,276 |
| nsv473319 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 139,339,022 | 139,339,022 |
| nsv473319 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 138,796,277 | 138,796,277 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3020550 | Remapped | Perfect | NC_000007.14:g.139 654276_139654277in s? | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 139,654,276 | 139,654,276 |
| nssv3020550 | Remapped | Perfect | NC_000007.13:g.139 339022_139339023in s? | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 139,339,022 | 139,339,022 |
| nssv3020550 | Submitted genomic | NC_000007.11:g.138 796277_138796278in s? | NCBI35 (hg17) | NC_000007.11 | Chr7 | 138,796,277 | 138,796,277 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv3020550 | 4 | NA19129 | Oligo aCGH | Probe signal intensity | Pass |