nsv4728030
- Organism: Homo sapiens
- Study:nstd197 (Boujemaa et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:348
- 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: 661 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 659 SVs from 77 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728030 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,611,466 | 76,611,813 |
| nsv4728030 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 98,301 | 98,648 |
| nsv4728030 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 76,240,783 | 76,241,130 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253815 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253815 | Remapped | Perfect | NT_187561.1:g.9830 1_98648del | GRCh38.p12 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 98,301 | 98,648 |
| nssv16253815 | Remapped | Perfect | NC_000007.14:g.766 11466_76611813del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,611,466 | 76,611,813 |
| nssv16253815 | Submitted genomic | NC_000007.13:g.762 40783_76241130del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,240,783 | 76,241,130 |