nsv5561159
- 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:32,389
- 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: 228 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 228 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5561159 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 141,866,324 (-20, +20) | 141,898,712 (-20, +22) | ||
| nsv5561159 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 142,187,461 (-20, +20) | 142,219,849 (-20, +22) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16971182 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16971182 | Submitted genomic | NC_000006.12:g.(14 1866304_141866344) _(141898692_141898 734)inv | GRCh38 (hg38) | NC_000006.12 | Chr6 | 141,866,324 (-20, +20) | 141,898,712 (-20, +22) | ||
| nssv16971182 | Remapped | Perfect | NC_000006.11:g.(14 2187441_142187481) _(142219829_142219 871)inv | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 142,187,461 (-20, +20) | 142,219,849 (-20, +22) |
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) |
|---|---|---|---|
| nssv16971182 | 0.033 | 213 | 6404 |