nsv6624248
- 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:19,572
- 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: 196 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 194 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6624248 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 47,341,939 | 47,361,510 |
| nsv6624248 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 45,419,305 | 45,438,876 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283330 | duplication | OSC0249 | SNP array | Probe signal intensity | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283330 | Remapped | Perfect | NC_000017.11:g.(?_ 47341939)_(4736151 0_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 47,341,939 | 47,361,510 |
| nssv18283330 | Submitted genomic | NC_000017.10:g.(?_ 45419305)_(4543887 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 45,419,305 | 45,438,876 |