nsv3242309
- 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:6,067
- Description:Absence of a L1HS 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: 185 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 185 SVs from 46 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3242309 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 7,465,086 | 7,471,152 | ||
nsv3242309 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 7,504,717 | 7,510,783 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14438254 | Submitted genomic | NC_000007.14:g.746 5086_7471152del606 6 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 7,465,086 | 7,471,152 | ||
nssv14438254 | Remapped | Perfect | NC_000007.13:g.750 4717_7510783del606 6 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 7,504,717 | 7,510,783 |