nsv5877950
- 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:977
- 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: 149 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 154 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 15 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5877950 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 206,641,337 | 206,642,313 | ||
nsv5877950 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 206,814,682 | 206,815,658 |
nsv5877950 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 632,191 | 633,167 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17354484 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17354484 | Submitted genomic | NC_000001.11:g.206 641337_206642313de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 206,641,337 | 206,642,313 | ||
nssv17354484 | Remapped | Perfect | NW_003871057.1:g.6 32191_633167del | GRCh37.p13 | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 632,191 | 633,167 |
nssv17354484 | Remapped | Perfect | NC_000001.10:g.206 814682_206815658de l | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 206,814,682 | 206,815,658 |