nsv4680628
- 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:406,422
- 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: 1484 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1484 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4680628 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 80,424,796 | 80,831,217 |
| nsv4680628 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000005.9 | Chr5 | 79,720,615 | 80,127,036 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16211315 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16211315 | Remapped | Perfect | NC_000005.10:g.(?_ 80424796)_(8083121 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 80,424,796 | 80,831,217 |
| nssv16211315 | Submitted genomic | NC_000005.9:g.(?_7 9720615)_(80127036 _?)dup | GRCh37.p13 | NC_000005.9 | Chr5 | 79,720,615 | 80,127,036 |
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) |
|---|---|
| nssv16211315 | <0.001 |