nsv4728021
- 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:8,163
- 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: 286 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 286 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728021 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 167,173,754 | 167,181,916 |
| nsv4728021 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 167,587,242 | 167,595,404 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253751 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253752 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253751 | Remapped | Perfect | NC_000006.12:g.167 173754_167181916de l | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,173,754 | 167,181,916 |
| nssv16253752 | Remapped | Perfect | NC_000006.12:g.167 176998_167178542de l | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,176,998 | 167,178,542 |
| nssv16253751 | Submitted genomic | NC_000006.11:g.167 587242_167595404de l | GRCh37 (hg19) | NC_000006.11 | Chr6 | 167,587,242 | 167,595,404 | ||
| nssv16253752 | Submitted genomic | NC_000006.11:g.167 590486_167592030de l | GRCh37 (hg19) | NC_000006.11 | Chr6 | 167,590,486 | 167,592,030 |