nsv4680310
- 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:476,771
- 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: 1220 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1220 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4680310 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 31,648,324 | 32,125,094 |
| nsv4680310 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000014.8 | Chr14 | 32,117,530 | 32,594,300 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16210637 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16210637 | Remapped | Perfect | NC_000014.9:g.(?_3 1648324)_(32125094 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 31,648,324 | 32,125,094 |
| nssv16210637 | Submitted genomic | NC_000014.8:g.(?_3 2117530)_(32594300 _?)dup | GRCh37.p13 | NC_000014.8 | Chr14 | 32,117,530 | 32,594,300 |
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) |
|---|---|
| nssv16210637 | <0.001 |