nsv5973594
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Almarri et al. 2020
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: 290 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 34 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5973594 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 54,250,278 | 54,250,278 | ||
| nsv5973594 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 224,645 | 224,645 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17395258 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17395258 | Submitted genomic | NC_000019.10:g.542 50278_54250279ins3 24 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 54,250,278 | 54,250,278 | ||
| nssv17395258 | Remapped | Perfect | NW_004166865.1:g.2 24645_224646ins324 | GRCh37.p13 | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 224,645 | 224,645 |