nsv5926338
- 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:183
- 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: 106 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 5 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5926338 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 112,967,650 | 112,967,832 | ||
nsv5926338 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000011.9 | Chr11 | 112,838,372 | 112,838,554 |
nsv5926338 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871078.1 | Chr11|NW_0 03871078.1 | 150,376 | 150,558 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17362489 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17362489 | Submitted genomic | NC_000011.10:g.112 967650_112967832de l | GRCh38 (hg38) | NC_000011.10 | Chr11 | 112,967,650 | 112,967,832 | ||
nssv17362489 | Remapped | Perfect | NW_003871078.1:g.1 50376_150558del | GRCh37.p13 | First Pass | NW_003871078.1 | Chr11|NW_0 03871078.1 | 150,376 | 150,558 |
nssv17362489 | Remapped | Perfect | NC_000011.9:g.1128 38372_112838554del | GRCh37.p13 | Second Pass | NC_000011.9 | Chr11 | 112,838,372 | 112,838,554 |