nsv4711596
- Organism: Homo sapiens
- Study:nstd195 (Mwapagha et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2
- Publication(s):Mwapagha 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: 285 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 285 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4711596 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 154,600,191 | 154,600,192 |
| nsv4711596 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_012132919.1 | Chr7|NW_01 2132919.1 | 177,186 | 177,187 |
| nsv4711596 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 154,391,901 | 154,391,902 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16246088 | deletion | B381 | Sequencing | Paired-end mapping | 1 | 5,743 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16246088 | Remapped | Perfect | NW_012132919.1:g.1 77186_177187del | GRCh38.p12 | Second Pass | NW_012132919.1 | Chr7|NW_01 2132919.1 | 177,186 | 177,187 |
| nssv16246088 | Remapped | Perfect | NC_000007.14:g.154 600191_154600192de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 154,600,191 | 154,600,192 |
| nssv16246088 | Submitted genomic | NC_000007.13:g.154 391901_154391902de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 154,391,901 | 154,391,902 |