nsv5919674
- 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:380,040
- 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: 1928 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1203 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5919674 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 142,415,664 | 142,795,703 | ||
| nsv5919674 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003571040.1 | Chr7|NW_00 3571040.1 | 705,943 | 998,747 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17430295 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17430295 | Submitted genomic | NC_000007.14:g.142 415664_142795703de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 142,415,664 | 142,795,703 | ||
| nssv17430295 | Remapped | Pass | NW_003571040.1:g.7 05943_998747del | GRCh37.p13 | Second Pass | NW_003571040.1 | Chr7|NW_00 3571040.1 | 705,943 | 998,747 |