nsv3565899
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Insertion of a Alu mobile element relative to 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: 540 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 320 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3565899 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 40,978,060 (-15, +15) | 40,978,060 (-15, +15) | ||
| nsv3565899 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 69,051,289 (-15, +15) | 69,051,289 (-15, +15) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14348036 | alu insertion | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14348036 | Submitted genomic | NC_000009.12:g.(40 978045_40978075)_( 40978045_40978075) ins281 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 40,978,060 (-15, +15) | 40,978,060 (-15, +15) | ||
| nssv14348036 | Remapped | Perfect | NC_000009.11:g.(69 051274_69051304)_( 69051274_69051304) ins281 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 69,051,289 (-15, +15) | 69,051,289 (-15, +15) |