nsv4679444
- 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:526,097
- 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: 1695 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1695 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4679444 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 124,915,110 | 125,441,206 |
| nsv4679444 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000008.10 | Chr8 | 125,927,352 | 126,453,448 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16211282 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16211282 | Remapped | Perfect | NC_000008.11:g.(?_ 124915110)_(125441 206_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 124,915,110 | 125,441,206 |
| nssv16211282 | Submitted genomic | NC_000008.10:g.(?_ 125927352)_(126453 448_?)dup | GRCh37.p13 | NC_000008.10 | Chr8 | 125,927,352 | 126,453,448 |
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) |
|---|---|
| nssv16211282 | 0.001 |