nsv6632779
- 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:41,412
- 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: 724 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 250 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 728 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6632779 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 1,843,267 | 1,884,678 |
| nsv6632779 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 26,643 | 68,054 |
| nsv6632779 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 1,791,433 | 1,832,844 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282583 | deletion | OSC2052 | SNP array | Probe signal intensity | nssv18281964, nssv18282582 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282583 | Remapped | Perfect | NT_187576.1:g.(?_2 6643)_(68054_?)del | GRCh38.p12 | Second Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 26,643 | 68,054 |
| nssv18282583 | Remapped | Perfect | NC_000008.11:g.(?_ 1843267)_(1884678_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 1,843,267 | 1,884,678 |
| nssv18282583 | Submitted genomic | NC_000008.10:g.(?_ 1791433)_(1832844_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 1,791,433 | 1,832,844 |