nsv6628253
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:461,732
- 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: 2415 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 2415 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628253 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 1,022,142 | 1,483,873 |
| nsv6628253 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 1,063,826 | 1,525,557 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18295289 | duplication | OSC4514 | SNP array | Probe signal intensity | 6 |
| nssv18295686 | duplication | OSC4630 | SNP array | Probe signal intensity | nssv18295687, nssv18296003 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18295289 | Remapped | Perfect | NC_000003.12:g.(?_ 1022142)_(1483873_ ?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 1,022,142 | 1,483,873 |
| nssv18295686 | Remapped | Perfect | NC_000003.12:g.(?_ 1022142)_(1483873_ ?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 1,022,142 | 1,483,873 |
| nssv18295289 | Submitted genomic | NC_000003.11:g.(?_ 1063826)_(1525557_ ?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 1,063,826 | 1,525,557 | ||
| nssv18295686 | Submitted genomic | NC_000003.11:g.(?_ 1063826)_(1525557_ ?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 1,063,826 | 1,525,557 |