nsv4080704
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:996
- Publication(s):gnomAD_Structural_Variants
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: 51 SVs from 7 studies. See in: genome view
Overlapping variant regions from other studies: 51 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4080704 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 178,471,598 | 178,472,593 |
| nsv4080704 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000002.11 | Chr2 | 179,336,325 | 179,337,320 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15969358 | duplication | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15969358 | Remapped | Perfect | NC_000002.12:g.178 471598_178472593du p | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 178,471,598 | 178,472,593 |
| nssv15969358 | Submitted genomic | NC_000002.11:g.179 336325_179337320du p | GRCh37.p13 | NC_000002.11 | Chr2 | 179,336,325 | 179,337,320 |
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) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv15969358 | 4.6e-005 | 1 | 21694 |