nsv6620634
- 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:587,714
- 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: 2829 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 3287 SVs from 110 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6620634 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 47,398,739 | 47,986,452 |
| nsv6620634 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 47,543,322 | 48,340,623 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18286923 | duplication | OSC3019 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18286923 | Remapped | Pass | NC_000010.11:g.(?_ 47398739)_(4798645 2_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 47,398,739 | 47,986,452 |
| nssv18286923 | Submitted genomic | NC_000010.10:g.(?_ 47543322)_(4834062 3_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,543,322 | 48,340,623 |