nsv3214954
- 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:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,787
- Description:Absence of a HERV 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: 348 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 348 SVs from 59 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3214954 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 8,677,118 | 8,678,904 | ||
nsv3214954 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 8,718,804 | 8,720,590 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14434868 | Submitted genomic | NC_000003.12:g.867 7118_8678904del178 6 | GRCh38 (hg38) | NC_000003.12 | Chr3 | 8,677,118 | 8,678,904 | ||
nssv14434868 | Remapped | Perfect | NC_000003.11:g.871 8804_8720590del178 6 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 8,718,804 | 8,720,590 |