nsv4680580
- 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:2,129,618
- 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: 3239 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 3558 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1436 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 3239 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4680580 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 31,757,265 | 32,636,349 |
| nsv4680580 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 2,721,316 | 4,850,933 |
| nsv4680580 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 3,929,915 | 4,688,481 |
| nsv4680580 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000015.9 | Chr15 | 32,049,468 | 32,928,550 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16209526 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16209526 | Remapped | Pass | NT_187660.1:g.(?_2 721316)_(4850933_? )dup | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 2,721,316 | 4,850,933 |
| nssv16209526 | Remapped | Pass | NW_011332701.1:g.( ?_3929915)_(468848 1_?)dup | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 3,929,915 | 4,688,481 |
| nssv16209526 | Remapped | Perfect | NC_000015.10:g.(?_ 31757265)_(3263634 9_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 31,757,265 | 32,636,349 |
| nssv16209526 | Submitted genomic | NC_000015.9:g.(?_3 2049468)_(32928550 _?)dup | GRCh37.p13 | NC_000015.9 | Chr15 | 32,049,468 | 32,928,550 |
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) |
|---|---|
| nssv16209526 | <0.001 |