nsv6631299
- 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:10,999
- 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: 116 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6631299 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 108,562,348 | 108,573,346 |
| nsv6631299 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 108,202,792 | 108,213,790 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18299614 | duplication | OSC5224 | SNP array | Probe signal intensity | nssv18299615, nssv18299613, nssv18299030 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18299614 | Remapped | Perfect | NC_000007.14:g.(?_ 108562348)_(108573 346_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 108,562,348 | 108,573,346 |
| nssv18299614 | Submitted genomic | NC_000007.13:g.(?_ 108202792)_(108213 790_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 108,202,792 | 108,213,790 |