nsv3376039
- 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:770
- 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: 267 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 267 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3376039 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 24,637,095 | 24,637,864 | ||
| nsv3376039 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 25,033,062 | 25,033,831 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14618062 | alu deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14619912 | alu deletion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14620502 | alu deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14618062 | Submitted genomic | NC_000022.11:g.246 37095_24637864del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 24,637,095 | 24,637,864 | ||
| nssv14619912 | Submitted genomic | NC_000022.11:g.246 37095_24637864del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 24,637,095 | 24,637,864 | ||
| nssv14620502 | Submitted genomic | NC_000022.11:g.246 37095_24637864del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 24,637,095 | 24,637,864 | ||
| nssv14618062 | Remapped | Perfect | NC_000022.10:g.250 33062_25033831delN C_000022.10:g.2503 3062_25033831del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,033,062 | 25,033,831 |
| nssv14619912 | Remapped | Perfect | NC_000022.10:g.250 33062_25033831delN C_000022.10:g.2503 3062_25033831del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,033,062 | 25,033,831 |
| nssv14620502 | Remapped | Perfect | NC_000022.10:g.250 33062_25033831delN C_000022.10:g.2503 3062_25033831del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,033,062 | 25,033,831 |