nsv4768297
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 381 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 381 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4768297 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 45,307,838 | 45,307,838 |
| nsv4768297 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 46,727,753 | 46,727,753 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16290721 | insertion | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16290721 | Remapped | Perfect | NC_000021.9:g.4530 7838_45307839ins21 5 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 45,307,838 | 45,307,838 |
| nssv16290721 | Submitted genomic | NC_000021.8:g.4672 7753_46727754ins21 5 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 46,727,753 | 46,727,753 |