nsv4727921
- Organism: Homo sapiens
- Study:nstd197 (Boujemaa et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,222
- 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: 242 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 268 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4727921 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 39,883,306 | 39,893,527 |
| nsv4727921 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 40,373,946 | 40,384,167 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253579 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253575 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253577 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253579 | Remapped | Perfect | NC_000019.10:g.398 83306_39892186del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,883,306 | 39,892,186 |
| nssv16253575 | Remapped | Perfect | NC_000019.10:g.398 83306_39893527del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,883,306 | 39,893,527 |
| nssv16253577 | Remapped | Perfect | NC_000019.10:g.398 85992_39892186del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,885,992 | 39,892,186 |
| nssv16253579 | Submitted genomic | NC_000019.9:g.4037 3946_40382826del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,373,946 | 40,382,826 | ||
| nssv16253575 | Submitted genomic | NC_000019.9:g.4037 3946_40384167del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,373,946 | 40,384,167 | ||
| nssv16253577 | Submitted genomic | NC_000019.9:g.4037 6632_40382826del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,376,632 | 40,382,826 |