nsv993401
- Organism: Homo sapiens
- Study:nstd94 (Helman et al. 2014)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Helman et al. 2014
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: 116 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 116 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 |
---|---|---|---|---|---|---|---|---|---|
nsv993401 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 49,095,512 | 49,095,512 |
nsv993401 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 47,712,049 | 47,712,049 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv3393041 | mobile element insertion | TCGA-02-2483 | Sequencing | Split read and paired-end mapping | 1,174 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv3393041 | Remapped | Perfect | NC_000020.11:g.490 95512_49095513ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 49,095,512 | 49,095,512 |
nssv3393041 | Submitted genomic | NC_000020.10:g.477 12049_47712050ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,712,049 | 47,712,049 |