nsv5868159
- 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:1,914,935
- 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: 2507 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 2480 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 685 SVs from 29 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5868159 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 49,706,604 | 51,621,538 | ||
nsv5868159 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 49,471,207 | 51,364,390 |
nsv5868159 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 1 | 1,334,653 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17469206 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17469206 | Submitted genomic | NC_000023.11:g.497 06604_51621538del | GRCh38 (hg38) | NC_000023.11 | ChrX | 49,706,604 | 51,621,538 | ||
nssv17469206 | Remapped | Pass | NW_004070877.1:g.1 _1334653del | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 1 | 1,334,653 |
nssv17469206 | Remapped | Good | NC_000023.10:g.494 71207_51364390del | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 49,471,207 | 51,364,390 |