nsv7049218
- 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:148,556
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: 476 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 394 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 244 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7049218 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 74,874,740 | 75,023,295 | ||
| nsv7049218 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 74,290,834 | 74,437,406 |
| nsv7049218 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,403,976 | 2,552,531 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18781960 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18781960 | Submitted genomic | NC_000007.14:g.748 74740_75023295inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 74,874,740 | 75,023,295 | ||
| nssv18781960 | Remapped | Perfect | NW_003871064.1:g.2 403976_2552531inv | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,403,976 | 2,552,531 |
| nssv18781960 | Remapped | Good | NC_000007.13:g.742 90834_74437406inv | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 74,290,834 | 74,437,406 |
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) |
|---|---|---|---|
| nssv18781960 | 4e-06 | 1 | 276268 |