nsv4680749
- 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:290,914
- 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: 860 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 860 SVs from 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4680749 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 128,970,130 | 129,261,043 |
| nsv4680749 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000008.10 | Chr8 | 129,982,376 | 130,273,289 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16209631 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16209631 | Remapped | Perfect | NC_000008.11:g.(?_ 128970130)_(129261 043_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 128,970,130 | 129,261,043 |
| nssv16209631 | Submitted genomic | NC_000008.10:g.(?_ 129982376)_(130273 289_?)del | GRCh37.p13 | NC_000008.10 | Chr8 | 129,982,376 | 130,273,289 |
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) |
|---|---|
| nssv16209631 | <0.001 |