nsv5705038
- 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 Alu 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: 124 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5705038 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 47,075,815 | 47,075,815 | ||
| nsv5705038 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 47,109,726 | 47,109,726 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17199057 | alu insertion | Sequencing | Other |
| nssv17214658 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17199057 | Submitted genomic | NC_000016.10:g.470 75815_47075816ins2 51 | GRCh38 (hg38) | NC_000016.10 | Chr16 | 47,075,815 | 47,075,815 | ||
| nssv17214658 | Submitted genomic | NC_000016.10:g.470 75815_47075816ins2 80 | GRCh38 (hg38) | NC_000016.10 | Chr16 | 47,075,815 | 47,075,815 | ||
| nssv17199057 | Remapped | Perfect | NC_000016.9:g.4710 9726_47109727ins25 1 | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 47,109,726 | 47,109,726 |
| nssv17214658 | Remapped | Perfect | NC_000016.9:g.4710 9726_47109727ins28 0 | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 47,109,726 | 47,109,726 |