nsv3367263
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:753
- Description:Absence of a Alu insertion that is present in the reference
- Publication(s):Audano et al. 2019
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: 208 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 208 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3367263 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 42,705,528 | 42,706,280 | ||
| nsv3367263 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 43,101,534 | 43,102,286 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14614198 | alu deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14621084 | alu deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14630353 | alu deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14614198 | Submitted genomic | NC_000022.11:g.427 05528_42706280del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 42,705,528 | 42,706,280 | ||
| nssv14621084 | Submitted genomic | NC_000022.11:g.427 05528_42706280del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 42,705,528 | 42,706,280 | ||
| nssv14630353 | Submitted genomic | NC_000022.11:g.427 05528_42706280del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 42,705,528 | 42,706,280 | ||
| nssv14614198 | Remapped | Perfect | NC_000022.10:g.431 01534_43102286delN C_000022.10:g.4310 1534_43102286del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 43,101,534 | 43,102,286 |
| nssv14621084 | Remapped | Perfect | NC_000022.10:g.431 01534_43102286delN C_000022.10:g.4310 1534_43102286del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 43,101,534 | 43,102,286 |
| nssv14630353 | Remapped | Perfect | NC_000022.10:g.431 01534_43102286delN C_000022.10:g.4310 1534_43102286del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 43,101,534 | 43,102,286 |