nsv6632907
- 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:174,065
- 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: 553 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 553 SVs from 52 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6632907 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 70,422,254 | 70,596,318 |
| nsv6632907 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 71,334,489 | 71,508,553 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18299981 | duplication | OSC5285 | SNP array | Probe signal intensity | nssv18299347, nssv18299692 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18299981 | Remapped | Perfect | NC_000008.11:g.(?_ 70422254)_(7059631 8_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 70,422,254 | 70,596,318 |
| nssv18299981 | Submitted genomic | NC_000008.10:g.(?_ 71334489)_(7150855 3_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 71,334,489 | 71,508,553 |