nsv7052973
- 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:3,428
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: 120 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 17 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7052973 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 50,316,450 | 50,319,877 | ||
| nsv7052973 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000003.11 | Chr3 | 50,353,881 | 50,357,308 |
| nsv7052973 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871059.1 | Chr3|NW_00 3871059.1 | 86,298 | 89,725 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18772337 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18772337 | Submitted genomic | NC_000003.12:g.503 16450_50319877inv | GRCh38 (hg38) | NC_000003.12 | Chr3 | 50,316,450 | 50,319,877 | ||
| nssv18772337 | Remapped | Perfect | NW_003871059.1:g.8 6298_89725inv | GRCh37.p13 | First Pass | NW_003871059.1 | Chr3|NW_00 3871059.1 | 86,298 | 89,725 |
| nssv18772337 | Remapped | Perfect | NC_000003.11:g.503 53881_50357308inv | GRCh37.p13 | Second Pass | NC_000003.11 | Chr3 | 50,353,881 | 50,357,308 |
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) |
|---|---|---|---|
| nssv18772337 | 4e-06 | 1 | 276268 |