nsv6624448
- 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:61,420
- 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: 389 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 389 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6624448 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 21,098,864 | 21,160,283 |
| nsv6624448 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 21,281,670 | 21,343,086 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18300556 | duplication | OSC5512 | SNP array | Probe signal intensity | nssv18301195, nssv18300555, nssv18301194 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18300556 | Remapped | Good | NC_000019.10:g.(?_ 21098864)_(2116028 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 21,098,864 | 21,160,283 |
| nssv18300556 | Submitted genomic | NC_000019.9:g.(?_2 1281670)_(21343086 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 21,281,670 | 21,343,086 |