nsv6147123
- 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:42,329
- 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: 558 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 561 SVs from 69 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6147123 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 247,128,053 (-827, +579) | 247,170,381 (-543, +813) | ||
| nsv6147123 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 247,291,355 (-827, +579) | 247,333,683 (-543, +813) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16898805 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16898805 | Submitted genomic | NC_000001.11:g.(24 7127226_247128632) _(247169838_247171 194)inv | GRCh38 (hg38) | NC_000001.11 | Chr1 | 247,128,053 (-827, +579) | 247,170,381 (-543, +813) | ||
| nssv16898805 | Remapped | Perfect | NC_000001.10:g.(24 7290528_247291934) _(247333140_247334 496)inv | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 247,291,355 (-827, +579) | 247,333,683 (-543, +813) |
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) |
|---|---|---|---|
| nssv16898805 | 0.146 | 934 | 6404 |