nsv5434730
- 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:16,240,294
- 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: 36011 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 36017 SVs from 135 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5434730 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 148,693,168 (-20, +20) | 164,933,461 (-20, +20) | ||
| nsv5434730 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 149,450,737 (-20, +20) | 165,789,971 (-20, +20) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16919089 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16919089 | Submitted genomic | NC_000002.12:g.(14 8693148_148693188) _(164933441_164933 481)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 148,693,168 (-20, +20) | 164,933,461 (-20, +20) | ||
| nssv16919089 | Remapped | Good | NC_000002.11:g.(14 9450717_149450757) _(165789951_165789 991)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 149,450,737 (-20, +20) | 165,789,971 (-20, +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) |
|---|---|---|---|
| nssv16919089 | <0.001 | 1 | 6404 |