nsv4680404
- 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:1,334,300
- 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: 4473 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 3840 SVs from 113 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4680404 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000016.10 | Chr16 | 34,885,225 | 36,219,524 |
| nsv4680404 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000001.10 | Chr1 | 149,024,803 | 149,772,497 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16211002 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16211002 | Remapped | Pass | NC_000016.10:g.(?_ 34885225)_(3621952 4_?)dup | GRCh38.p12 | Second Pass | NC_000016.10 | Chr16 | 34,885,225 | 36,219,524 |
| nssv16211002 | Submitted genomic | NC_000001.10:g.(?_ 149024803)_(149772 497_?)dup | GRCh37.p13 | NC_000001.10 | Chr1 | 149,024,803 | 149,772,497 |
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) |
|---|---|
| nssv16211002 | <0.001 |