nsv3558321
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:
Insertion of a 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: 162 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3558321 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 163,271,314 | 163,271,314 | ||
| nsv3558321 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 163,692,346 | 163,692,346 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14427093 | mobile element insertion | HG00514 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 39,861 |
| nssv14467311 | mobile element insertion | SAMN00006581 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 41,185 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14427093 | Submitted genomic | NC_000006.12:g.163 271314_163271315in s80 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 163,271,314 | 163,271,314 | ||
| nssv14467311 | Submitted genomic | NC_000006.12:g.163 271314_163271315in s80 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 163,271,314 | 163,271,314 | ||
| nssv14427093 | Remapped | Perfect | NC_000006.11:g.163 692346_163692347in s80 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 163,692,346 | 163,692,346 |
| nssv14467311 | Remapped | Perfect | NC_000006.11:g.163 692346_163692347in s80 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 163,692,346 | 163,692,346 |