nsv6630608
- 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:14,460
- 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: 151 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630608 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 37,912,893 | 37,927,352 |
| nsv6630608 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 37,912,995 | 37,927,454 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18284040 | deletion | OSC2437 | SNP array | Probe signal intensity | nssv18284038, nssv18284039, nssv18284041 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18284040 | Remapped | Perfect | NC_000005.10:g.(?_ 37912893)_(3792735 2_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 37,912,893 | 37,927,352 |
| nssv18284040 | Submitted genomic | NC_000005.9:g.(?_3 7912995)_(37927454 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 37,912,995 | 37,927,454 |