nsv3244344
- 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:6,109
- 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: 151 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 55 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3244344 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 58,384,164 | 58,390,272 | ||
nsv3244344 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 57,679,991 | 57,686,099 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14436072 | Submitted genomic | NC_000005.10:g.583 84164_58390272del6 108 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 58,384,164 | 58,390,272 | ||
nssv14436072 | Remapped | Perfect | NC_000005.9:g.5767 9991_57686099del61 08 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 57,679,991 | 57,686,099 |