nsv4749427
- Organism: Homo sapiens
- Study:nstd199 (Quan 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:58,965,895
- Publication(s):Quan 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: 146638 SVs from 158 studies. See in: genome view
Overlapping variant regions from other studies: 145658 SVs from 158 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4749427 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 29,226,811 | 88,192,705 |
| nsv4749427 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 29,238,132 | 88,226,311 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16294931 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16294931 | Remapped | Good | NC_000016.10:g.292 26811_88192705del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 29,226,811 | 88,192,705 |
| nssv16294931 | Submitted genomic | NC_000016.9:g.2923 8132_88226311del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 29,238,132 | 88,226,311 |