nsv6625830
- 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:382,128
- 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: 1730 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1683 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625830 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 145,669,635 | 146,051,762 |
| nsv6625830 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 145,383,239 | 145,765,424 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18289269 | deletion | OSC3512 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18289269 | Remapped | Good | NC_000001.11:g.(?_ 145669635)_(146051 762_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,669,635 | 146,051,762 |
| nssv18289269 | Submitted genomic | NC_000001.10:g.(?_ 145383239)_(145765 424_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,383,239 | 145,765,424 |