nsv6629980
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,714
- 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: 563 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 544 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6629980 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 71,674 | 87,387 |
| nsv6629980 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 71,566 | 87,277 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282596 | duplication | OSC2062 | SNP array | Probe signal intensity | 6 |
| nssv18296672 | duplication | OSC4845 | SNP array | Probe signal intensity | 10 |
| nssv18323980 | deletion | OSC1629 | SNP array | Probe signal intensity | 8 |
| nssv18324181 | duplication | OSC1575 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282596 | Remapped | Good | NC_000004.12:g.(?_ 71674)_(87387_?)du p | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 71,674 | 87,387 |
| nssv18296672 | Remapped | Good | NC_000004.12:g.(?_ 71674)_(87387_?)du p | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 71,674 | 87,387 |
| nssv18323980 | Remapped | Good | NC_000004.12:g.(?_ 71674)_(87387_?)de l | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 71,674 | 87,387 |
| nssv18324181 | Remapped | Good | NC_000004.12:g.(?_ 71674)_(87387_?)du p | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 71,674 | 87,387 |
| nssv18282596 | Submitted genomic | NC_000004.11:g.(?_ 71566)_(87277_?)du p | GRCh37 (hg19) | NC_000004.11 | Chr4 | 71,566 | 87,277 | ||
| nssv18296672 | Submitted genomic | NC_000004.11:g.(?_ 71566)_(87277_?)du p | GRCh37 (hg19) | NC_000004.11 | Chr4 | 71,566 | 87,277 | ||
| nssv18323980 | Submitted genomic | NC_000004.11:g.(?_ 71566)_(87277_?)de l | GRCh37 (hg19) | NC_000004.11 | Chr4 | 71,566 | 87,277 | ||
| nssv18324181 | Submitted genomic | NC_000004.11:g.(?_ 71566)_(87277_?)du p | GRCh37 (hg19) | NC_000004.11 | Chr4 | 71,566 | 87,277 |