nsv5059940
- 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:24,807
- 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: 289 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 229 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5059940 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 60,569,163 | 60,593,969 | ||
| nsv5059940 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000003.11 | Chr3 | 60,558,332 | 60,579,702 |
| nsv5059940 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003871058.1 | Chr3|NW_00 3871058.1 | 1 | 21,371 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|---|
| nssv16596259 | copy number loss | CLP-4000136 | SNP array | Probe signal intensity | Bilateral cleft lip and palate | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16596259 | Submitted genomic | NC_000003.12:g.(?_ 60569163)_(6059396 9_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 60,569,163 | 60,593,969 | ||
| nssv16596259 | Remapped | Pass | NW_003871058.1:g.( ?_1)_(21371_?)del | GRCh37.p13 | First Pass | NW_003871058.1 | Chr3|NW_00 3871058.1 | 1 | 21,371 |
| nssv16596259 | Remapped | Pass | NC_000003.11:g.(?_ 60558332)_(6057970 2_?)del | GRCh37.p13 | Second Pass | NC_000003.11 | Chr3 | 60,558,332 | 60,579,702 |