nsv5327037
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,304,119
- Publication(s):Chen et al. 2021
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: 3920 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 3920 SVs from 112 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5327037 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000002.12 | Chr2 | 130,185,359 (-30, +29) | 131,489,477 (-30, +29) | ||
| nsv5327037 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 130,942,932 (-30, +29) | 132,247,050 (-30, +29) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16747999 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16747999 | Submitted genomic | NC_000002.12:g.(13 0185329_130185388) _(131489447_131489 506)inv | GRCh38.p13 | NC_000002.12 | Chr2 | 130,185,359 (-30, +29) | 131,489,477 (-30, +29) | ||
| nssv16747999 | Remapped | Perfect | NC_000002.11:g.(13 0942902_130942961) _(132247020_132247 079)inv | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 130,942,932 (-30, +29) | 132,247,050 (-30, +29) |
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) |
|---|---|
| nssv16747999 | 0.251 |