nsv3520126
- 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:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Insertion of a AluY 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: 114 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3520126 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 92,552,121 | 92,552,121 | ||
| nsv3520126 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 92,181,435 | 92,181,435 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14400331 | alu insertion | SAMN00001696 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 45,591 |
| nssv14427907 | alu insertion | HG00514 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 39,861 |
| nssv14467531 | alu 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14400331 | Submitted genomic | NC_000007.14:g.925 52121_92552122ins6 69 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 92,552,121 | 92,552,121 | ||
| nssv14427907 | Submitted genomic | NC_000007.14:g.925 52121_92552122ins6 67 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 92,552,121 | 92,552,121 | ||
| nssv14467531 | Submitted genomic | NC_000007.14:g.925 52121_92552122ins6 69 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 92,552,121 | 92,552,121 | ||
| nssv14400331 | Remapped | Perfect | NC_000007.13:g.921 81435_92181436ins6 69 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 92,181,435 | 92,181,435 |
| nssv14427907 | Remapped | Perfect | NC_000007.13:g.921 81435_92181436ins6 67 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 92,181,435 | 92,181,435 |
| nssv14467531 | Remapped | Perfect | NC_000007.13:g.921 81435_92181436ins6 69 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 92,181,435 | 92,181,435 |