nsv5301541
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:469,690
- Publication(s):Chen et al. 2021
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: 1354 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1354 SVs from 82 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5301541 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000005.10 | Chr5 | 163,429,697 (-10, +5) | 163,899,386 (-10, +9) | ||
| nsv5301541 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 162,856,703 (-10, +5) | 163,326,392 (-10, +9) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16750992 | duplication | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16750992 | Submitted genomic | NC_000005.10:g.(16 3429687_163429702) _(163899376_163899 395)dup | GRCh38.p13 | NC_000005.10 | Chr5 | 163,429,697 (-10, +5) | 163,899,386 (-10, +9) | ||
| nssv16750992 | Remapped | Perfect | NC_000005.9:g.(162 856693_162856708)_ (163326382_1633264 01)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 162,856,703 (-10, +5) | 163,326,392 (-10, +9) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) |
|---|---|
| nssv16750992 | <0.001 |