nsv6627160
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:27,655
- Publication(s):Zarrei et al. 2023
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: 711 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 711 SVs from 70 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627160 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 46,122,865 | 46,150,519 |
| nsv6627160 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 47,542,779 | 47,570,433 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282720 | deletion | OSC2151 | SNP array | Probe signal intensity | nssv18282719, nssv18282718, nssv18282090 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282720 | Remapped | Perfect | NC_000021.9:g.(?_4 6122865)_(46150519 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 46,122,865 | 46,150,519 |
| nssv18282720 | Submitted genomic | NC_000021.8:g.(?_4 7542779)_(47570433 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 47,542,779 | 47,570,433 |