nsv993391
- 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: 382 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 384 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv993391 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 13,400,974 | 13,400,974 |
| nsv993391 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 14,773,295 | 14,773,295 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3394050 | mobile element insertion | TCGA-C8-A12Q | Sequencing | Split read and paired-end mapping | 1,051 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3394050 | Remapped | Perfect | NC_000021.9:g.1340 0974_13400975ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,400,974 | 13,400,974 |
| nssv3394050 | Submitted genomic | NC_000021.8:g.1477 3295_14773296ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,773,295 | 14,773,295 |