nsv4679090
- 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:4,914,464
- 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: 18287 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 18376 SVs from 135 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4679090 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 23,376,627 | 28,291,090 |
| nsv4679090 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000015.9 | Chr15 | 23,621,774 | 28,536,236 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16210934 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16210934 | Remapped | Perfect | NC_000015.10:g.(?_ 23376627)_(2829109 0_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,376,627 | 28,291,090 |
| nssv16210934 | Submitted genomic | NC_000015.9:g.(?_2 3621774)_(28536236 _?)dup | GRCh37.p13 | NC_000015.9 | Chr15 | 23,621,774 | 28,536,236 |
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) |
|---|---|
| nssv16210934 | <0.001 |