nsv5315701
- 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:237
- 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: 139 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5315701 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000002.12 | Chr2 | 190,267,401 (-7, +7) | 190,267,637 (-7, +5) | ||
| nsv5315701 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 191,132,127 (-7, +7) | 191,132,363 (-7, +5) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16763768 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16763768 | Submitted genomic | NC_000002.12:g.(19 0267394_190267408) _(190267630_190267 642)del | GRCh38.p13 | NC_000002.12 | Chr2 | 190,267,401 (-7, +7) | 190,267,637 (-7, +5) | ||
| nssv16763768 | Remapped | Perfect | NC_000002.11:g.(19 1132120_191132134) _(191132356_191132 368)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 191,132,127 (-7, +7) | 191,132,363 (-7, +5) |
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) |
|---|---|
| nssv16763768 | <0.001 |