nsv5311175
- 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:2,066
- 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: 101 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5311175 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000015.10 | Chr15 | 66,746,279 (-28, +316) | 66,748,344 (-310, +27) | ||
| nsv5311175 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 67,038,617 (-28, +316) | 67,040,682 (-310, +27) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16743531 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16743531 | Submitted genomic | NC_000015.10:g.(66 746251_66746595)_( 66748034_66748371) del | GRCh38.p13 | NC_000015.10 | Chr15 | 66,746,279 (-28, +316) | 66,748,344 (-310, +27) | ||
| nssv16743531 | Remapped | Perfect | NC_000015.9:g.(670 38589_67038933)_(6 7040372_67040709)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 67,038,617 (-28, +316) | 67,040,682 (-310, +27) |
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) |
|---|---|
| nssv16743531 | <0.001 |