nsv4727957
- 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:41,606
- 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: 1067 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1067 SVs from 86 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4727957 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 1,578,339 | 1,619,944 |
| nsv4727957 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 1,558,985 | 1,600,590 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253656 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253659 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253660 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253656 | Remapped | Perfect | NC_000020.11:g.157 8339_1588632del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,578,339 | 1,588,632 |
| nssv16253659 | Remapped | Perfect | NC_000020.11:g.158 8561_1588632del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,588,561 | 1,588,632 |
| nssv16253660 | Remapped | Perfect | NC_000020.11:g.158 8561_1619944del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,588,561 | 1,619,944 |
| nssv16253656 | Submitted genomic | NC_000020.10:g.155 8985_1569278del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,985 | 1,569,278 | ||
| nssv16253659 | Submitted genomic | NC_000020.10:g.156 9207_1569278del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,569,207 | 1,569,278 | ||
| nssv16253660 | Submitted genomic | NC_000020.10:g.156 9207_1600590del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,569,207 | 1,600,590 |