nsv4727895
- Organism: Homo sapiens
- Study:nstd197 (Boujemaa et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,411
- Publication(s):Boujemaa et al. 2021
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: 364 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 364 SVs from 56 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4727895 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 20,449,974 | 20,458,384 |
| nsv4727895 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 20,353,287 | 20,361,697 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253520 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253523 | copy number loss | Sequencing | Read depth | Breast cancer |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253520 | Remapped | Perfect | NC_000017.11:g.204 49974_20453067del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 20,449,974 | 20,453,067 |
| nssv16253523 | Remapped | Perfect | NC_000017.11:g.204 49974_20458384del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 20,449,974 | 20,458,384 |
| nssv16253520 | Submitted genomic | NC_000017.10:g.203 53287_20356380del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 20,353,287 | 20,356,380 | ||
| nssv16253523 | Submitted genomic | NC_000017.10:g.203 53287_20361697del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 20,353,287 | 20,361,697 |