nsv4679249
- 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:545,342
- 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: 2094 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 2094 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4679249 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 62,720,179 | 63,265,520 |
| nsv4679249 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000004.11 | Chr4 | 63,585,897 | 64,131,238 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16210072 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16210072 | Remapped | Perfect | NC_000004.12:g.(?_ 62720179)_(6326552 0_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 62,720,179 | 63,265,520 |
| nssv16210072 | Submitted genomic | NC_000004.11:g.(?_ 63585897)_(6413123 8_?)dup | GRCh37.p13 | NC_000004.11 | Chr4 | 63,585,897 | 64,131,238 |
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) |
|---|---|
| nssv16210072 | <0.001 |