nsv5059939
- Organism: Homo sapiens
- Study:nstd202 (Ghazali et al. 2021)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:38,147
- Description:Cytoband start: 3p14.2 Cytoband end: 3p14.2
- Publication(s):Ghazali et al. 2021
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: 683 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 683 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5059939 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 2,297,972 | 2,336,118 | ||
| nsv5059939 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 2,339,656 | 2,377,802 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|---|
| nssv16596260 | copy number gain | CLP-400014 | SNP array | Probe signal intensity | CLP | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16596260 | Submitted genomic | NC_000003.12:g.(?_ 2297972)_(2336118_ ?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 2,297,972 | 2,336,118 | ||
| nssv16596260 | Remapped | Perfect | NC_000003.11:g.(?_ 2339656)_(2377802_ ?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 2,339,656 | 2,377,802 |