nsv5685311
- 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: 137 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 20 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5685311 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 210,604,231 | 210,604,231 | ||
nsv5685311 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 211,468,955 | 211,468,955 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17207115 | alu insertion | Sequencing | Other |
nssv17225089 | alu insertion | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17207115 | Submitted genomic | NC_000002.12:g.210 604231_210604232in s281 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 210,604,231 | 210,604,231 | ||
nssv17225089 | Submitted genomic | NC_000002.12:g.210 604231_210604232in s281 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 210,604,231 | 210,604,231 | ||
nssv17207115 | Remapped | Perfect | NC_000002.11:g.211 468955_211468956in s281 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 211,468,955 | 211,468,955 |
nssv17225089 | Remapped | Perfect | NC_000002.11:g.211 468955_211468956in s281 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 211,468,955 | 211,468,955 |