nsv6248127
- 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: 75 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 21 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6248127 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 62,686,539 | 62,686,539 | ||
nsv6248127 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 62,454,011 | 62,454,011 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17842594 | alu insertion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17842594 | Submitted genomic | NC_000011.10:g.626 86539_62686540ins2 70 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 62,686,539 | 62,686,539 | ||
nssv17842594 | Remapped | Perfect | NC_000011.9:g.6245 4011_62454012ins27 0 | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 62,454,011 | 62,454,011 |