nsv6543423
- 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:1,304
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: 100 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6543423 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 150,424,293 | 150,425,596 | ||
| nsv6543423 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 150,396,769 | 150,398,072 |
| nsv6543423 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 7,239,706 | 7,241,009 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18247522 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18247522 | Submitted genomic | NC_000001.11:g.150 424293_150425596in v | GRCh38 (hg38) | NC_000001.11 | Chr1 | 150,424,293 | 150,425,596 | ||
| nssv18247522 | Remapped | Perfect | NW_003871055.3:g.7 239706_7241009inv | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 7,239,706 | 7,241,009 |
| nssv18247522 | Remapped | Perfect | NC_000001.10:g.150 396769_150398072in v | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 150,396,769 | 150,398,072 |
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) |
|---|---|---|---|
| nssv18247522 | <0.001 | 2 | 35516 |