nsv4728005
- 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:1,164
- 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: 259 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 259 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728005 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 148,174,235 | 148,175,398 |
| nsv4728005 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 147,553,798 | 147,554,961 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253726 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253727 | copy number gain | Sequencing | Read depth | Breast cancer |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253726 | Remapped | Perfect | NC_000005.10:g.148 174235_148174370de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 148,174,235 | 148,174,370 |
| nssv16253727 | Remapped | Perfect | NC_000005.10:g.148 174235_148175398du p | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 148,174,235 | 148,175,398 |
| nssv16253726 | Submitted genomic | NC_000005.9:g.1475 53798_147553933del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 147,553,798 | 147,553,933 | ||
| nssv16253727 | Submitted genomic | NC_000005.9:g.1475 53798_147554961dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 147,553,798 | 147,554,961 |