nsv5947248
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:417,347
- 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: 7374 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 2882 SVs from 56 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5947248 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 106,000,462 | 106,417,808 | ||
| nsv5947248 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 663,629 | 1,008,126 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17386028 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17386028 | Submitted genomic | NC_000014.9:g.1060 00462_106417808del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 106,000,462 | 106,417,808 | ||
| nssv17386028 | Remapped | Pass | NW_004166863.1:g.6 63629_1008126del | GRCh37.p13 | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 663,629 | 1,008,126 |