nsv5881056
- 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:234
- 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: 559 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 544 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 21 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5881056 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 149,605,273 | 149,605,506 | ||
nsv5881056 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 148,686,956 | 148,687,193 |
nsv5881056 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,129,671 | 5,129,904 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17430765 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17430765 | Submitted genomic | NC_000023.11:g.149 605273_149605506de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 149,605,273 | 149,605,506 | ||
nssv17430765 | Remapped | Perfect | NW_004070890.2:g.5 129671_5129904del | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,129,671 | 5,129,904 |
nssv17430765 | Remapped | Good | NC_000023.10:g.148 686956_148687193de l | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 148,686,956 | 148,687,193 |