nsv4679058
- Organism: Homo sapiens
- Study:nstd189 (Perez-Palma et al. 2020)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:33,603,470
- Publication(s):Pérez-Palma et al. 2020
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: 106016 SVs from 146 studies. See in: genome view
Overlapping variant regions from other studies: 106113 SVs from 146 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4679058 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 13,096,514 | 46,699,983 |
| nsv4679058 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000021.8 | Chr21 | 14,468,835 | 48,129,895 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16210732 | duplication | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16210732 | Remapped | Good | NC_000021.9:g.(?_1 3096514)_(46699983 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,096,514 | 46,699,983 |
| nssv16210732 | Submitted genomic | NC_000021.8:g.(?_1 4468835)_(48129895 _?)dup | GRCh37.p13 | NC_000021.8 | Chr21 | 14,468,835 | 48,129,895 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) |
|---|---|
| nssv16210732 | <0.001 |