nsv4680797
- 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:817,552
- 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: 2264 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2264 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4680797 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 101,075,993 | 101,893,544 |
| nsv4680797 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000010.10 | Chr10 | 102,835,750 | 103,653,301 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16209993 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16209993 | Remapped | Perfect | NC_000010.11:g.(?_ 101075993)_(101893 544_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 101,075,993 | 101,893,544 |
| nssv16209993 | Submitted genomic | NC_000010.10:g.(?_ 102835750)_(103653 301_?)dup | GRCh37.p13 | NC_000010.10 | Chr10 | 102,835,750 | 103,653,301 |
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) |
|---|---|
| nssv16209993 | <0.001 |