nsv4727948
- 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:6,529
- 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: 498 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 498 SVs from 73 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4727948 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 130,191,832 | 130,198,360 |
| nsv4727948 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 130,949,405 | 130,955,933 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253625 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253623 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253625 | Remapped | Perfect | NC_000002.12:g.130 191832_130198360de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 130,191,832 | 130,198,360 |
| nssv16253623 | Remapped | Perfect | NC_000002.12:g.130 195080_130195227de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 130,195,080 | 130,195,227 |
| nssv16253625 | Submitted genomic | NC_000002.11:g.130 949405_130955933de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 130,949,405 | 130,955,933 | ||
| nssv16253623 | Submitted genomic | NC_000002.11:g.130 952653_130952800de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 130,952,653 | 130,952,800 |