nsv4728029
- 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:6,303
- 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: 255 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 251 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728029 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,434,039 | 76,440,341 |
| nsv4728029 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 76,063,356 | 76,069,658 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253812 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253814 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253812 | Remapped | Perfect | NC_000007.14:g.764 34039_76434155del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,434,039 | 76,434,155 |
| nssv16253814 | Remapped | Perfect | NC_000007.14:g.764 34039_76440341del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,434,039 | 76,440,341 |
| nssv16253812 | Submitted genomic | NC_000007.13:g.760 63356_76063472del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,063,356 | 76,063,472 | ||
| nssv16253814 | Submitted genomic | NC_000007.13:g.760 63356_76069658del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,063,356 | 76,069,658 |