nsv5520408
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:589
- Publication(s):Byrska-Bishop et al. 2022
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: 129 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5520408 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 54,339,243 | 54,339,831 | ||
| nsv5520408 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 313,610 | 314,198 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17725521 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17725521 | Submitted genomic | NC_000019.10:g.543 39243_54339831del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 54,339,243 | 54,339,831 | ||
| nssv17725521 | Remapped | Perfect | NW_004166865.1:g.3 13610_314198del | GRCh37.p13 | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 313,610 | 314,198 |
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) |
|---|---|---|---|
| nssv17725521 | <0.001 | 6 | 6400 |