nsv3565928
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- 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: 156 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3565928 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 94,948,431 (-15, +15) | 94,948,431 (-15, +15) | ||
| nsv3565928 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 97,710,713 (-15, +15) | 97,710,713 (-15, +15) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14348999 | alu insertion | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
| nssv14349000 | alu insertion | SAMN00001695 | Sequencing | Sequence alignment | Heterozygous | 15,732 |
| nssv14349001 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14348999 | Submitted genomic | NC_000009.12:g.(94 948416_94948446)_( 94948416_94948446) ins281 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 94,948,431 (-15, +15) | 94,948,431 (-15, +15) | ||
| nssv14349000 | Submitted genomic | NC_000009.12:g.(94 948416_94948446)_( 94948416_94948446) ins281 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 94,948,431 (-15, +15) | 94,948,431 (-15, +15) | ||
| nssv14349001 | Submitted genomic | NC_000009.12:g.(94 948416_94948446)_( 94948416_94948446) ins281 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 94,948,431 (-15, +15) | 94,948,431 (-15, +15) | ||
| nssv14348999 | Remapped | Perfect | NC_000009.11:g.(97 710698_97710728)_( 97710698_97710728) ins281 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 97,710,713 (-15, +15) | 97,710,713 (-15, +15) |
| nssv14349000 | Remapped | Perfect | NC_000009.11:g.(97 710698_97710728)_( 97710698_97710728) ins281 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 97,710,713 (-15, +15) | 97,710,713 (-15, +15) |
| nssv14349001 | Remapped | Perfect | NC_000009.11:g.(97 710698_97710728)_( 97710698_97710728) ins281 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 97,710,713 (-15, +15) | 97,710,713 (-15, +15) |