nsv5434383
- 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:619
- 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: 240 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 240 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5434383 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 196,305,721 (-29, +29) | 196,306,339 (-61, +20) | ||
| nsv5434383 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 196,032,592 (-29, +29) | 196,033,210 (-61, +20) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16944617 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16944617 | Submitted genomic | NC_000003.12:g.(19 6305692_196305750) _(196306278_196306 359)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 196,305,721 (-29, +29) | 196,306,339 (-61, +20) | ||
| nssv16944617 | Remapped | Perfect | NC_000003.11:g.(19 6032563_196032621) _(196033149_196033 230)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 196,032,592 (-29, +29) | 196,033,210 (-61, +20) |
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) |
|---|---|---|---|
| nssv16944617 | <0.001 | 1 | 6404 |