nsv4680389
- 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:401,540
- 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: 829 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 831 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4680389 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 175,460,875 | 175,862,414 |
| nsv4680389 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000001.10 | Chr1 | 175,430,011 | 175,831,550 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16209236 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16209236 | Remapped | Perfect | NC_000001.11:g.(?_ 175460875)_(175862 414_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 175,460,875 | 175,862,414 |
| nssv16209236 | Submitted genomic | NC_000001.10:g.(?_ 175430011)_(175831 550_?)dup | GRCh37.p13 | NC_000001.10 | Chr1 | 175,430,011 | 175,831,550 |
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) |
|---|---|
| nssv16209236 | <0.001 |