nsv6632314
- 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:12,448
- 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: 242 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 47 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 242 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6632314 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 129,774,491 | 129,786,938 |
| nsv6632314 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_019805494.1 | Chr8|NW_01 9805494.1 | 58,864 | 71,311 |
| nsv6632314 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 130,786,737 | 130,799,184 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18290834 | duplication | OSC3808 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18290834 | Remapped | Perfect | NW_019805494.1:g.( ?_58864)_(71311_?) dup | GRCh38.p12 | Second Pass | NW_019805494.1 | Chr8|NW_01 9805494.1 | 58,864 | 71,311 |
| nssv18290834 | Remapped | Perfect | NC_000008.11:g.(?_ 129774491)_(129786 938_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 129,774,491 | 129,786,938 |
| nssv18290834 | Submitted genomic | NC_000008.10:g.(?_ 130786737)_(130799 184_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 130,786,737 | 130,799,184 |