nsv5301183
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:642,853
- 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: 4530 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 3796 SVs from 101 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5301183 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000008.11 | Chr8 | 143,160,504 (-10, +5) | 143,803,356 (-10, +4) | ||
| nsv5301183 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 144,241,921 (-10, +5) | 144,743,525 (-10, +4) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16746079 | duplication | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16746079 | Submitted genomic | NC_000008.11:g.(14 3160494_143160509) _(143803346_143803 360)dup | GRCh38.p13 | NC_000008.11 | Chr8 | 143,160,504 (-10, +5) | 143,803,356 (-10, +4) | ||
| nssv16746079 | Remapped | Pass | NC_000008.10:g.(14 4241911_144241926) _(144743515_144743 529)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 144,241,921 (-10, +5) | 144,743,525 (-10, +4) |
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) |
|---|---|
| nssv16746079 | <0.001 |