nsv3174955
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,852
- Description:Absence of a AluS mobile element insertion that is present in the reference
- Publication(s):Chaisson 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: 435 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 435 SVs from 69 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3174955 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 154,600,187 | 154,608,038 | ||
| nsv3174955 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 154,391,897 | 154,399,748 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14437684 | alu deletion | HG00514 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 39,861 |
| nssv14454681 | alu deletion | SAMN00006581 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 41,185 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14437684 | Submitted genomic | NC_000007.14:g.154 600187_154608038de l7851 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 154,600,187 | 154,608,038 | ||
| nssv14454681 | Submitted genomic | NC_000007.14:g.154 600187_154608038de l7851 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 154,600,187 | 154,608,038 | ||
| nssv14437684 | Remapped | Perfect | NC_000007.13:g.154 391897_154399748de l7851 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 154,391,897 | 154,399,748 |
| nssv14454681 | Remapped | Perfect | NC_000007.13:g.154 391897_154399748de l7851 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 154,391,897 | 154,399,748 |