nsv6547513
- Organism: Homo sapiens
- Study:nstd223 (Sedlazeck et al. 2020)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:387
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: 444 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 508 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6547513 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 147,583,452 | 147,583,838 | ||
| nsv6547513 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 147,055,252 | 147,055,638 |
| nsv6547513 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 4,398,865 | 4,399,251 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18247488 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18247488 | Submitted genomic | NC_000001.11:g.147 583452_147583838in v | GRCh38 (hg38) | NC_000001.11 | Chr1 | 147,583,452 | 147,583,838 | ||
| nssv18247488 | Remapped | Perfect | NW_003871055.3:g.4 398865_4399251inv | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 4,398,865 | 4,399,251 |
| nssv18247488 | Remapped | Perfect | NC_000001.10:g.147 055252_147055638in v | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 147,055,252 | 147,055,638 |
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) |
|---|---|---|---|
| nssv18247488 | <0.001 | 7 | 34916 |