nsv5705557
- 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: 135 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5705557 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 41,807,206 | 41,807,206 | ||
| nsv5705557 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000019.9 | Chr19 | 42,311,244 | 42,311,244 |
| nsv5705557 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 376,245 | 376,245 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17199859 | alu insertion | Sequencing | Other |
| nssv17216126 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17199859 | Submitted genomic | NC_000019.10:g.418 07206_41807207ins2 09 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 41,807,206 | 41,807,206 | ||
| nssv17216126 | Submitted genomic | NC_000019.10:g.418 07206_41807207ins2 10 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 41,807,206 | 41,807,206 | ||
| nssv17199859 | Remapped | Perfect | NW_004775434.1:g.3 76245_376246ins209 | GRCh37.p13 | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 376,245 | 376,245 |
| nssv17216126 | Remapped | Perfect | NW_004775434.1:g.3 76245_376246ins210 | GRCh37.p13 | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 376,245 | 376,245 |
| nssv17199859 | Remapped | Perfect | NC_000019.9:g.4231 1244_42311245ins20 9 | GRCh37.p13 | Second Pass | NC_000019.9 | Chr19 | 42,311,244 | 42,311,244 |
| nssv17216126 | Remapped | Perfect | NC_000019.9:g.4231 1244_42311245ins21 0 | GRCh37.p13 | Second Pass | NC_000019.9 | Chr19 | 42,311,244 | 42,311,244 |