nsv3226733
- 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:429
- 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: 190 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 44 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3226733 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 5,898,215 | 5,898,643 | ||
nsv3226733 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 5,898,448 | 5,898,876 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14436521 | Submitted genomic | NC_000006.12:g.589 8215_5898643del428 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 5,898,215 | 5,898,643 | ||
nssv14436521 | Remapped | Perfect | NC_000006.11:g.589 8448_5898876del428 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 5,898,448 | 5,898,876 |