nsv3565452
- 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 SVA 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: 250 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 250 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3565452 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 22,021,611 (-15, +15) | 22,021,611 (-15, +15) | ||
| nsv3565452 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 21,879,122 (-15, +15) | 21,879,122 (-15, +15) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14340346 | sva insertion | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
| nssv14340347 | sva insertion | SAMN00006579 | Sequencing | Sequence alignment | Heterozygous | 13,953 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14340346 | Submitted genomic | NC_000008.11:g.(22 021596_22021626)_( 22021596_22021626) ins1309 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 22,021,611 (-15, +15) | 22,021,611 (-15, +15) | ||
| nssv14340347 | Submitted genomic | NC_000008.11:g.(22 021596_22021626)_( 22021596_22021626) ins1309 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 22,021,611 (-15, +15) | 22,021,611 (-15, +15) | ||
| nssv14340346 | Remapped | Perfect | NC_000008.10:g.(21 879107_21879137)_( 21879107_21879137) ins1309 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 21,879,122 (-15, +15) | 21,879,122 (-15, +15) |
| nssv14340347 | Remapped | Perfect | NC_000008.10:g.(21 879107_21879137)_( 21879107_21879137) ins1309 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 21,879,122 (-15, +15) | 21,879,122 (-15, +15) |