nsv1192913
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:378,496
- Publication(s):Polyak et al. 2015
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: 1334 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1334 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 463 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1192913 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 89,030,467 | 89,408,962 |
| nsv1192913 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 88,659,781 | 89,038,276 |
| nsv1192913 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 88,497,717 | 88,876,212 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7473296 | copy number loss | 30133 | Oligo aCGH | Probe signal intensity | nssv7468857 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7473296 | Remapped | Perfect | NC_000007.14:g.(?_ 89030467)_(8940896 2_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 89,030,467 | 89,408,962 |
| nssv7473296 | Remapped | Perfect | NC_000007.13:g.(?_ 88659781)_(8903827 6_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 88,659,781 | 89,038,276 |
| nssv7473296 | Submitted genomic | NC_000007.12:g.(?_ 88497717)_(8887621 2_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 88,497,717 | 88,876,212 |