nsv5567010
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:82
- Publication(s):Ebert et al. 2021
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: 329 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 329 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5567010 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 6,438,388 | 6,438,469 | ||
nsv5567010 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 6,498,448 | 6,498,529 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17066207 | deletion | SAMN00001696 | Sequencing | Sequence alignment | 346 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17066207 | Submitted genomic | NC_000001.11:g.643 8388_6438469delT | GRCh38 (hg38) | NC_000001.11 | Chr1 | 6,438,388 | 6,438,469 | ||
nssv17066207 | Remapped | Perfect | NC_000001.10:g.649 8448_6498529delT | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 6,498,448 | 6,498,529 |