nsv4727869
- 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:4,903
- 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: 403 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 403 SVs from 64 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4727869 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 99,808,172 | 99,813,074 |
nsv4727869 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 100,348,377 | 100,353,279 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype |
---|---|---|---|---|
nssv16253465 | copy number loss | Sequencing | Read depth | Breast cancer |
nssv16253466 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16253465 | Remapped | Perfect | NC_000015.10:g.998 08172_99808302del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 99,808,172 | 99,808,302 |
nssv16253466 | Remapped | Perfect | NC_000015.10:g.998 08172_99813074del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 99,808,172 | 99,813,074 |
nssv16253465 | Submitted genomic | NC_000015.9:g.1003 48377_100348507del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 100,348,377 | 100,348,507 | ||
nssv16253466 | Submitted genomic | NC_000015.9:g.1003 48377_100353279del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 100,348,377 | 100,353,279 |