nsv5706059
- 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: 249 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 249 SVs from 42 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5706059 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 132,606,902 | 132,606,902 | ||
nsv5706059 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 133,183,488 | 133,183,488 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17193761 | alu insertion | Sequencing | Other |
nssv17226133 | alu insertion | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17193761 | Submitted genomic | NC_000012.12:g.132 606902_132606903in s280 | GRCh38 (hg38) | NC_000012.12 | Chr12 | 132,606,902 | 132,606,902 | ||
nssv17226133 | Submitted genomic | NC_000012.12:g.132 606902_132606903in s281 | GRCh38 (hg38) | NC_000012.12 | Chr12 | 132,606,902 | 132,606,902 | ||
nssv17193761 | Remapped | Perfect | NC_000012.11:g.133 183488_133183489in s280 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 133,183,488 | 133,183,488 |
nssv17226133 | Remapped | Perfect | NC_000012.11:g.133 183488_133183489in s281 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 133,183,488 | 133,183,488 |