nsv4680028
- 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:1,908,643
- 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: 8700 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 8700 SVs from 116 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4680028 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 22,492,649 | 24,401,291 |
| nsv4680028 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000019.9 | Chr19 | 22,675,451 | 24,584,093 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16209845 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16209845 | Remapped | Perfect | NC_000019.10:g.(?_ 22492649)_(2440129 1_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 22,492,649 | 24,401,291 |
| nssv16209845 | Submitted genomic | NC_000019.9:g.(?_2 2675451)_(24584093 _?)dup | GRCh37.p13 | NC_000019.9 | Chr19 | 22,675,451 | 24,584,093 |
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) |
|---|---|
| nssv16209845 | <0.001 |