nsv5175077
- 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:72
- 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: 119 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 119 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5175077 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 83,059,997 | 83,060,068 | ||
| nsv5175077 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 82,355,816 | 82,355,887 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16651232 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16651232 | Submitted genomic | NC_000005.10:g.830 59997_83060068ins1 419 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 83,059,997 | 83,060,068 | ||
| nssv16651232 | Remapped | Perfect | NC_000005.9:g.8235 5816_82355887ins14 19 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 82,355,816 | 82,355,887 |
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) |
|---|---|
| nssv16651232 | 0.615 |