nsv5717050
- Organism: Homo sapiens
- Study:nstd211 (Chuang et al. 2021)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Insertion of a SVA mobile element relative to the reference
- Publication(s):Chuang 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: 109 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5717050 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 92,969,739 | 92,969,739 | ||
| nsv5717050 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000014.8 | Chr14 | 93,436,084 | 93,436,084 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17235930 | sva insertion | Sequencing | Other |
| nssv17238687 | sva insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17235930 | Submitted genomic | NC_000014.9:g.9296 9739_92969740ins74 9 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 92,969,739 | 92,969,739 | ||
| nssv17238687 | Submitted genomic | NC_000014.9:g.9296 9739_92969740ins76 5 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 92,969,739 | 92,969,739 | ||
| nssv17235930 | Remapped | Perfect | NC_000014.8:g.9343 6084_93436085ins74 9 | GRCh37.p13 | Second Pass | NC_000014.8 | Chr14 | 93,436,084 | 93,436,084 |
| nssv17238687 | Remapped | Perfect | NC_000014.8:g.9343 6084_93436085ins76 5 | GRCh37.p13 | Second Pass | NC_000014.8 | Chr14 | 93,436,084 | 93,436,084 |