nsv6620138
- 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:149,807
- 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: 2627 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 2648 SVs from 106 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6620138 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 46,434,696 | 46,584,502 |
| nsv6620138 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 46,965,115 | 47,115,057 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283262 | deletion | OSC2338 | SNP array | Probe signal intensity | 9 |
| nssv18284890 | duplication | OSC2610 | SNP array | Probe signal intensity | nssv18284280, nssv18284527, nssv18284528 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283262 | Remapped | Good | NC_000010.11:g.(?_ 46434696)_(4658450 2_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,434,696 | 46,584,502 |
| nssv18284890 | Remapped | Good | NC_000010.11:g.(?_ 46434696)_(4658450 2_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,434,696 | 46,584,502 |
| nssv18283262 | Submitted genomic | NC_000010.10:g.(?_ 46965115)_(4711505 7_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,965,115 | 47,115,057 | ||
| nssv18284890 | Submitted genomic | NC_000010.10:g.(?_ 46965115)_(4711505 7_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,965,115 | 47,115,057 |