nsv4728086
- 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:47,894
- 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: 272 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 491 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728086 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000010.11 | Chr10 | 50,192,654 | 50,240,547 |
| nsv4728086 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 48,007,125 | 48,055,018 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253863 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253856 | copy number gain | Sequencing | Read depth | Breast cancer |
| nssv16253857 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253863 | Remapped | Good | NC_000010.11:g.501 92654_50218630del | GRCh38.p12 | Second Pass | NC_000010.11 | Chr10 | 50,192,654 | 50,218,630 |
| nssv16253856 | Remapped | Good | NC_000010.11:g.502 10824_50218630dup | GRCh38.p12 | Second Pass | NC_000010.11 | Chr10 | 50,210,824 | 50,218,630 |
| nssv16253857 | Remapped | Good | NC_000010.11:g.502 10824_50240547dup | GRCh38.p12 | Second Pass | NC_000010.11 | Chr10 | 50,210,824 | 50,240,547 |
| nssv16253863 | Submitted genomic | NC_000010.10:g.480 07125_48033105del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 48,007,125 | 48,033,105 | ||
| nssv16253856 | Submitted genomic | NC_000010.10:g.480 25301_48033105dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 48,025,301 | 48,033,105 | ||
| nssv16253857 | Submitted genomic | NC_000010.10:g.480 25301_48055018dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 48,025,301 | 48,055,018 |