nsv5440116
- 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:135,108
- 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: 566 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 566 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5440116 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 218,294,393 (-20, +25) | 218,429,500 (-25, +20) | ||
| nsv5440116 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 219,159,116 (-20, +25) | 219,294,223 (-25, +20) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16928206 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16928206 | Submitted genomic | NC_000002.12:g.(21 8294373_218294418) _(218429475_218429 520)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 218,294,393 (-20, +25) | 218,429,500 (-25, +20) | ||
| nssv16928206 | Remapped | Perfect | NC_000002.11:g.(21 9159096_219159141) _(219294198_219294 243)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 219,159,116 (-20, +25) | 219,294,223 (-25, +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) |
|---|---|---|---|
| nssv16928206 | <0.001 | 1 | 6404 |