nsv5324341
- 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:5,296,181
- 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: 14375 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 14375 SVs from 123 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5324341 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000004.12 | Chr4 | 137,020,568 (-10, +5) | 142,316,748 (-6, +9) | ||
| nsv5324341 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 137,941,722 (-10, +5) | 143,237,901 (-6, +9) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16745632 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16745632 | Submitted genomic | NC_000004.12:g.(13 7020558_137020573) _(142316742_142316 757)inv | GRCh38.p13 | NC_000004.12 | Chr4 | 137,020,568 (-10, +5) | 142,316,748 (-6, +9) | ||
| nssv16745632 | Remapped | Perfect | NC_000004.11:g.(13 7941712_137941727) _(143237895_143237 910)inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 137,941,722 (-10, +5) | 143,237,901 (-6, +9) |
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) |
|---|---|
| nssv16745632 | <0.001 |