nsv4680842
- 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:690,367
- 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: 2091 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 2118 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4680842 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 13,074,392 | 13,764,758 |
| nsv4680842 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000021.8 | Chr21 | 14,446,713 | 15,137,079 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16210425 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16210425 | Remapped | Perfect | NC_000021.9:g.(?_1 3074392)_(13764758 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,074,392 | 13,764,758 |
| nssv16210425 | Submitted genomic | NC_000021.8:g.(?_1 4446713)_(15137079 _?)dup | GRCh37.p13 | NC_000021.8 | Chr21 | 14,446,713 | 15,137,079 |
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) |
|---|---|
| nssv16210425 | <0.001 |