nsv4728106
- 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:6,338
- 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: 225 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 225 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728106 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 90,035,213 | 90,041,550 |
| nsv4728106 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 89,768,381 | 89,774,718 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253892 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253893 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253892 | Remapped | Perfect | NC_000011.10:g.900 35213_90041550del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 90,035,213 | 90,041,550 |
| nssv16253893 | Remapped | Perfect | NC_000011.10:g.900 41052_90041550del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 90,041,052 | 90,041,550 |
| nssv16253892 | Submitted genomic | NC_000011.9:g.8976 8381_89774718del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 89,768,381 | 89,774,718 | ||
| nssv16253893 | Submitted genomic | NC_000011.9:g.8977 4220_89774718del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 89,774,220 | 89,774,718 |