nsv6251591
- Organism: Homo sapiens
- Study:nstd215 (Prakrithi et al. 2022)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Prakrithi et al. 2022
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: 119 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 119 SVs from 29 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6251591 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 61,719,790 | 61,719,790 | ||
nsv6251591 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 60,294,846 | 60,294,846 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17850687 | alu insertion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17850687 | Submitted genomic | NC_000020.11:g.617 19790_61719791ins2 69 | GRCh38 (hg38) | NC_000020.11 | Chr20 | 61,719,790 | 61,719,790 | ||
nssv17850687 | Remapped | Perfect | NC_000020.10:g.602 94846_60294847ins2 69 | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 60,294,846 | 60,294,846 |