nsv5180981
- 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:15
- 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: 414 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 415 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5180981 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 53,311,121 | 53,311,135 | ||
| nsv5180981 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 53,340,302 | 53,340,333 |
| nsv5180981 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,024,236 | 3,024,250 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16716548 | alu 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16716548 | Submitted genomic | NC_000023.11:g.533 11121_53311135ins1 96 | GRCh38 (hg38) | NC_000023.11 | ChrX | 53,311,121 | 53,311,135 | ||
| nssv16716548 | Remapped | Perfect | NW_004070877.1:g.3 024236_3024250ins1 96 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 3,024,236 | 3,024,250 |
| nssv16716548 | Remapped | Pass | NC_000023.10:g.533 40302_53340333ins1 96 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 53,340,302 | 53,340,333 |
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) |
|---|---|
| nssv16716548 | 1 |