nsv6630356
- 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:661,567
- 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: 1739 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1739 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630356 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 57,386,102 | 58,047,668 |
| nsv6630356 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 56,681,929 | 57,343,495 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18293964 | duplication | OSC4217 | SNP array | Probe signal intensity | nssv18293615, nssv18294866, nssv18294867 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18293964 | Remapped | Perfect | NC_000005.10:g.(?_ 57386102)_(5804766 8_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 57,386,102 | 58,047,668 |
| nssv18293964 | Submitted genomic | NC_000005.9:g.(?_5 6681929)_(57343495 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 56,681,929 | 57,343,495 |