nsv3565918
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- 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: 125 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3565918 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 86,689,503 (-15, +15) | 86,689,503 (-15, +15) | ||
| nsv3565918 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 89,304,418 (-15, +15) | 89,304,418 (-15, +15) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14348077 | alu insertion | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
| nssv14348078 | alu insertion | SAMN00001696 | Sequencing | Sequence alignment | Heterozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14348077 | Submitted genomic | NC_000009.12:g.(86 689488_86689518)_( 86689488_86689518) ins281 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 86,689,503 (-15, +15) | 86,689,503 (-15, +15) | ||
| nssv14348078 | Submitted genomic | NC_000009.12:g.(86 689488_86689518)_( 86689488_86689518) ins281 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 86,689,503 (-15, +15) | 86,689,503 (-15, +15) | ||
| nssv14348077 | Remapped | Perfect | NC_000009.11:g.(89 304403_89304433)_( 89304403_89304433) ins281 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 89,304,418 (-15, +15) | 89,304,418 (-15, +15) |
| nssv14348078 | Remapped | Perfect | NC_000009.11:g.(89 304403_89304433)_( 89304403_89304433) ins281 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 89,304,418 (-15, +15) | 89,304,418 (-15, +15) |