nsv7048362
- 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:81
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: 95 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 2 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7048362 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 130,572,248 | 130,572,328 | ||
| nsv7048362 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 130,256,521 | 130,256,601 |
| nsv7048362 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871065.1 | Chr7|NW_00 3871065.1 | 251,479 | 251,559 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18779041 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18779041 | Submitted genomic | NC_000007.14:g.130 572248_130572328in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 130,572,248 | 130,572,328 | ||
| nssv18779041 | Remapped | Perfect | NW_003871065.1:g.2 51479_251559inv | GRCh37.p13 | First Pass | NW_003871065.1 | Chr7|NW_00 3871065.1 | 251,479 | 251,559 |
| nssv18779041 | Remapped | Perfect | NC_000007.13:g.130 256521_130256601in v | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 130,256,521 | 130,256,601 |
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) |
|---|---|---|---|
| nssv18779041 | 4e-06 | 1 | 276258 |