nsv4679362
- 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:295,192
- 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: 2034 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 2034 SVs from 101 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4679362 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 161,902,492 | 162,197,683 |
| nsv4679362 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000006.11 | Chr6 | 162,323,524 | 162,618,715 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16210256 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16210256 | Remapped | Perfect | NC_000006.12:g.(?_ 161902492)_(162197 683_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 161,902,492 | 162,197,683 |
| nssv16210256 | Submitted genomic | NC_000006.11:g.(?_ 162323524)_(162618 715_?)dup | GRCh37.p13 | NC_000006.11 | Chr6 | 162,323,524 | 162,618,715 |
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) |
|---|---|
| nssv16210256 | 0.001 |