nsv6627168
- 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:600,928
- 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: 2012 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 2067 SVs from 90 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627168 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,975,883 |
| nsv6627168 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 16,855,618 | 17,456,773 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18284073 | duplication | OSC2458 | SNP array | Probe signal intensity | nssv18283393, nssv18284074 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18284073 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1697588 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,975,883 |
| nssv18284073 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1745677 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,456,773 |