nsv6622590
- 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:246,032
- 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: 1561 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1561 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6622590 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 101,488,263 | 101,734,294 |
| nsv6622590 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 102,028,468 | 102,274,497 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18287766 | duplication | OSC3122 | SNP array | Probe signal intensity | 9 |
| nssv18288845 | duplication | OSC3232 | SNP array | Probe signal intensity | nssv18288846, nssv18288847, nssv18287965 |
| nssv18290412 | duplication | OSC3663 | SNP array | Probe signal intensity | 6 |
| nssv18295339 | duplication | OSC4549 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18287766 | Remapped | Good | NC_000015.10:g.(?_ 101488263)_(101734 294_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 101,488,263 | 101,734,294 |
| nssv18288845 | Remapped | Good | NC_000015.10:g.(?_ 101488263)_(101734 294_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 101,488,263 | 101,734,294 |
| nssv18290412 | Remapped | Good | NC_000015.10:g.(?_ 101488263)_(101734 294_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 101,488,263 | 101,734,294 |
| nssv18295339 | Remapped | Good | NC_000015.10:g.(?_ 101488263)_(101734 294_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 101,488,263 | 101,734,294 |
| nssv18287766 | Submitted genomic | NC_000015.9:g.(?_1 02028468)_(1022744 97_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 102,028,468 | 102,274,497 | ||
| nssv18288845 | Submitted genomic | NC_000015.9:g.(?_1 02028468)_(1022744 97_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 102,028,468 | 102,274,497 | ||
| nssv18290412 | Submitted genomic | NC_000015.9:g.(?_1 02028468)_(1022744 97_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 102,028,468 | 102,274,497 | ||
| nssv18295339 | Submitted genomic | NC_000015.9:g.(?_1 02028468)_(1022744 97_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 102,028,468 | 102,274,497 |