nsv6625215
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:60,446
- 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: 435 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 435 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625215 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 45,346,662 | 45,407,107 |
| nsv6625215 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 45,849,920 | 45,910,365 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282825 | duplication | OSC2241 | SNP array | Probe signal intensity | nssv18282211, nssv18282531, nssv18282824 |
| nssv18324109 | duplication | OSC1718 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282825 | Remapped | Perfect | NC_000019.10:g.(?_ 45346662)_(4540710 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 45,346,662 | 45,407,107 |
| nssv18324109 | Remapped | Perfect | NC_000019.10:g.(?_ 45346662)_(4540710 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 45,346,662 | 45,407,107 |
| nssv18282825 | Submitted genomic | NC_000019.9:g.(?_4 5849920)_(45910365 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 45,849,920 | 45,910,365 | ||
| nssv18324109 | Submitted genomic | NC_000019.9:g.(?_4 5849920)_(45910365 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 45,849,920 | 45,910,365 |