nsv6628852
- 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:55,570
- 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: 521 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 521 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628852 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 5,484,281 | 5,539,850 |
| nsv6628852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 5,525,968 | 5,581,537 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18288990 | duplication | OSC3340 | SNP array | Probe signal intensity | nssv18288991, nssv18288992, nssv18289049 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18288990 | Remapped | Perfect | NC_000003.12:g.(?_ 5484281)_(5539850_ ?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 5,484,281 | 5,539,850 |
| nssv18288990 | Submitted genomic | NC_000003.11:g.(?_ 5525968)_(5581537_ ?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 5,525,968 | 5,581,537 |