nsv4728011
- 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:385,584
- 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: 4610 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 4610 SVs from 118 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728011 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 29,723,465 | 30,109,048 |
| nsv4728011 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 29,691,242 | 30,076,825 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253758 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253759 | copy number gain | Sequencing | Read depth | Breast cancer |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253758 | Remapped | Perfect | NC_000006.12:g.297 23465_29725306del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,723,465 | 29,725,306 |
| nssv16253759 | Remapped | Perfect | NC_000006.12:g.297 23465_30109048dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,723,465 | 30,109,048 |
| nssv16253758 | Submitted genomic | NC_000006.11:g.296 91242_29693083del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,691,242 | 29,693,083 | ||
| nssv16253759 | Submitted genomic | NC_000006.11:g.296 91242_30076825dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,691,242 | 30,076,825 |