nsv6624288
- 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:251,234
- 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: 1126 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1126 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6624288 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 4,571,456 | 4,822,689 |
| nsv6624288 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 4,474,751 | 4,725,984 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18284929 | duplication | OSC2638 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18284929 | Remapped | Perfect | NC_000017.11:g.(?_ 4571456)_(4822689_ ?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 4,571,456 | 4,822,689 |
| nssv18284929 | Submitted genomic | NC_000017.10:g.(?_ 4474751)_(4725984_ ?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 4,474,751 | 4,725,984 |