nsv4680116
- 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:102,341
- 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: 402 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 402 SVs from 54 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4680116 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 163,299,933 | 163,402,273 |
| nsv4680116 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000004.11 | Chr4 | 164,221,085 | 164,323,425 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16209437 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16209437 | Remapped | Perfect | NC_000004.12:g.(?_ 163299933)_(163402 273_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 163,299,933 | 163,402,273 |
| nssv16209437 | Submitted genomic | NC_000004.11:g.(?_ 164221085)_(164323 425_?)del | GRCh37.p13 | NC_000004.11 | Chr4 | 164,221,085 | 164,323,425 |
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) |
|---|---|
| nssv16209437 | 0.002 |