nsv4727893
- 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:106,148
- 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: 875 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 335 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 875 SVs from 87 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4727893 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 18,388,220 | 18,494,367 |
| nsv4727893 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_017363819.1 | Chr17|NW_0 17363819.1 | 158,199 | 264,346 |
| nsv4727893 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 18,291,534 | 18,397,681 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253531 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253522 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253525 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253531 | Remapped | Perfect | NW_017363819.1:g.1 58199_262838del | GRCh38.p12 | Second Pass | NW_017363819.1 | Chr17|NW_0 17363819.1 | 158,199 | 262,838 |
| nssv16253522 | Remapped | Perfect | NW_017363819.1:g.2 46835_264346del | GRCh38.p12 | Second Pass | NW_017363819.1 | Chr17|NW_0 17363819.1 | 246,835 | 264,346 |
| nssv16253525 | Remapped | Perfect | NW_017363819.1:g.2 53855_257736del | GRCh38.p12 | Second Pass | NW_017363819.1 | Chr17|NW_0 17363819.1 | 253,855 | 257,736 |
| nssv16253531 | Remapped | Perfect | NC_000017.11:g.183 88220_18492859del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 18,388,220 | 18,492,859 |
| nssv16253522 | Remapped | Perfect | NC_000017.11:g.184 76856_18494367del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 18,476,856 | 18,494,367 |
| nssv16253525 | Remapped | Perfect | NC_000017.11:g.184 83876_18487757del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 18,483,876 | 18,487,757 |
| nssv16253531 | Submitted genomic | NC_000017.10:g.182 91534_18396173del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 18,291,534 | 18,396,173 | ||
| nssv16253522 | Submitted genomic | NC_000017.10:g.183 80170_18397681del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 18,380,170 | 18,397,681 | ||
| nssv16253525 | Submitted genomic | NC_000017.10:g.183 87190_18391071del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 18,387,190 | 18,391,071 |