nsv7073104
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:355,142
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: 1629 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1301 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 641 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7073104 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 44,517,558 | 44,872,699 | ||
| nsv7073104 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000021.8 | Chr21 | 45,937,441 | 46,223,846 |
| nsv7073104 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_004775435.1 | Chr21|NW_0 04775435.1 | 20,881 | 307,252 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18762793 | inversion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18762793 | Submitted genomic | NC_000021.9:g.4451 7558_44872699inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 44,517,558 | 44,872,699 | ||
| nssv18762793 | Remapped | Pass | NW_004775435.1:g.2 0881_307252inv | GRCh37.p13 | First Pass | NW_004775435.1 | Chr21|NW_0 04775435.1 | 20,881 | 307,252 |
| nssv18762793 | Remapped | Pass | NC_000021.8:g.4593 7441_46223846inv | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 45,937,441 | 46,223,846 |
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) |
|---|---|---|---|
| nssv18762793 | 4e-06 | 1 | 276268 |