nsv4728092
- 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:9,276
- 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: 567 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 567 SVs from 74 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4728092 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 122,584,323 | 122,593,598 |
nsv4728092 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 124,343,839 | 124,353,114 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype |
---|---|---|---|---|
nssv16253845 | copy number loss | Sequencing | Read depth | Breast cancer |
nssv16253837 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16253845 | Remapped | Perfect | NC_000010.11:g.122 584323_122593598de l | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 122,584,323 | 122,593,598 |
nssv16253837 | Remapped | Perfect | NC_000010.11:g.122 585272_122593598de l | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 122,585,272 | 122,593,598 |
nssv16253845 | Submitted genomic | NC_000010.10:g.124 343839_124353114de l | GRCh37 (hg19) | NC_000010.10 | Chr10 | 124,343,839 | 124,353,114 | ||
nssv16253837 | Submitted genomic | NC_000010.10:g.124 344788_124353114de l | GRCh37 (hg19) | NC_000010.10 | Chr10 | 124,344,788 | 124,353,114 |