nsv6620756
- 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:168,133
- 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: 559 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 488 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6620756 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 49,943,778 | 50,111,910 |
| nsv6620756 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_017363816.1 | Chr11|NW_0 17363816.1 | 1 | 140,877 |
| nsv6620756 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 49,965,330 | 50,071,081 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18300316 | deletion | OSC5519 | SNP array | Probe signal intensity | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18300316 | Remapped | Pass | NW_017363816.1:g.( ?_1)_(140877_?)del | GRCh38.p12 | Second Pass | NW_017363816.1 | Chr11|NW_0 17363816.1 | 1 | 140,877 |
| nssv18300316 | Remapped | Pass | NC_000011.10:g.(?_ 49943778)_(5011191 0_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,943,778 | 50,111,910 |
| nssv18300316 | Submitted genomic | NC_000011.9:g.(?_4 9965330)_(50071081 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 49,965,330 | 50,071,081 |