nsv5625986
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Ebert 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: 226 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 28 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5625986 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 50,097,286 | 50,097,286 | ||
| nsv5625986 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004504302.1 | Chr10|NW_0 04504302.1 | 276,461 | 276,461 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17070807 | insertion | SAMN00016965 | Sequencing | Sequence alignment | 1,475 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17070807 | Submitted genomic | NC_000010.11:g.500 97286_50097287ins3 13 | GRCh38 (hg38) | NC_000010.11 | Chr10 | 50,097,286 | 50,097,286 | ||
| nssv17070807 | Remapped | Perfect | NW_004504302.1:g.2 76461_276462ins313 | GRCh37.p13 | First Pass | NW_004504302.1 | Chr10|NW_0 04504302.1 | 276,461 | 276,461 |