nsv6630143
- 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:151,724
- 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: 1188 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1189 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630143 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 181,108,802 | 181,260,525 |
| nsv6630143 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 180,535,802 | 180,687,526 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18300334 | duplication | OSC5536 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18300334 | Remapped | Good | NC_000005.10:g.(?_ 181108802)_(181260 525_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 181,108,802 | 181,260,525 |
| nssv18300334 | Submitted genomic | NC_000005.9:g.(?_1 80535802)_(1806875 26_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,535,802 | 180,687,526 |