nsv5558418
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:850
- 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: 216 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5558418 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 207,119,001 (-287, +65) | 207,119,850 (-837, +26) | ||
| nsv5558418 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 207,292,346 (-287, +65) | 207,293,195 (-837, +26) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16894971 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16894971 | Submitted genomic | NC_000001.11:g.(20 7118714_207119066) _(207119013_207119 876)inv | GRCh38 (hg38) | NC_000001.11 | Chr1 | 207,119,001 (-287, +65) | 207,119,850 (-837, +26) | ||
| nssv16894971 | Remapped | Perfect | NC_000001.10:g.(20 7292059_207292411) _(207292358_207293 221)inv | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 207,292,346 (-287, +65) | 207,293,195 (-837, +26) |
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) |
|---|---|---|---|
| nssv16894971 | 0.585 | 3747 | 6404 |