nsv6625912
- 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:36,615
- 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: 1152 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1169 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625912 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 1,716,419 | 1,753,033 |
| nsv6625912 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 1,647,858 | 1,684,472 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283173 | duplication | OSC2282 | SNP array | Probe signal intensity | 7 |
| nssv18285452 | duplication | OSC2772 | SNP array | Probe signal intensity | 5 |
| nssv18322197 | duplication | OSC1286 | SNP array | Probe signal intensity | 5 |
| nssv18322957 | duplication | OSC1361 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283173 | Remapped | Perfect | NC_000001.11:g.(?_ 1716419)_(1753033_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,716,419 | 1,753,033 |
| nssv18285452 | Remapped | Perfect | NC_000001.11:g.(?_ 1716419)_(1753033_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,716,419 | 1,753,033 |
| nssv18322197 | Remapped | Perfect | NC_000001.11:g.(?_ 1716419)_(1753033_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,716,419 | 1,753,033 |
| nssv18322957 | Remapped | Perfect | NC_000001.11:g.(?_ 1716419)_(1753033_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,716,419 | 1,753,033 |
| nssv18283173 | Submitted genomic | NC_000001.10:g.(?_ 1647858)_(1684472_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,647,858 | 1,684,472 | ||
| nssv18285452 | Submitted genomic | NC_000001.10:g.(?_ 1647858)_(1684472_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,647,858 | 1,684,472 | ||
| nssv18322197 | Submitted genomic | NC_000001.10:g.(?_ 1647858)_(1684472_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,647,858 | 1,684,472 | ||
| nssv18322957 | Submitted genomic | NC_000001.10:g.(?_ 1647858)_(1684472_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,647,858 | 1,684,472 |