nsv5193839
- Organism: Homo sapiens
- Study:nstd203 (Borges-Monroy et al. 2021)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:76
- Publication(s):Borges-Monroy et al. 2021
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: 159 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5193839 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 47,331,936 | 47,332,011 | ||
| nsv5193839 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 48,244,525 | 48,244,577 |
| nsv5193839 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775431.1 | Chr8|NW_00 4775431.1 | 68,094 | 68,169 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16665590 | line1 insertion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16665590 | Submitted genomic | NC_000008.11:g.473 31936_47332011ins1 94 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 47,331,936 | 47,332,011 | ||
| nssv16665590 | Remapped | Perfect | NW_004775431.1:g.6 8094_68169ins194 | GRCh37.p13 | First Pass | NW_004775431.1 | Chr8|NW_00 4775431.1 | 68,094 | 68,169 |
| nssv16665590 | Remapped | Pass | NC_000008.10:g.482 44525_48244577ins1 94 | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 48,244,525 | 48,244,577 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) |
|---|---|
| nssv16665590 | 1 |