nsv6623523
- 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:15,292
- 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: 216 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 37 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6623523 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 76,844,965 | 76,860,256 |
| nsv6623523 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 76,878,862 | 76,894,153 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18299929 | deletion | OSC5243 | SNP array | Probe signal intensity | nssv18299928, nssv18299048 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18299929 | Remapped | Perfect | NC_000016.10:g.(?_ 76844965)_(7686025 6_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 76,844,965 | 76,860,256 |
| nssv18299929 | Submitted genomic | NC_000016.9:g.(?_7 6878862)_(76894153 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 76,878,862 | 76,894,153 |