nsv5302333
- 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:20,570
- 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: 437 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 437 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5302333 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000009.12 | Chr9 | 133,060,643 (-269, +10) | 133,081,212 (-15, +172) | ||
| nsv5302333 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 135,936,030 (-269, +10) | 135,956,599 (-15, +172) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16743720 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16743720 | Submitted genomic | NC_000009.12:g.(13 3060374_133060653) _(133081197_133081 384)dup | GRCh38.p13 | NC_000009.12 | Chr9 | 133,060,643 (-269, +10) | 133,081,212 (-15, +172) | ||
| nssv16743720 | Remapped | Perfect | NC_000009.11:g.(13 5935761_135936040) _(135956584_135956 771)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 135,936,030 (-269, +10) | 135,956,599 (-15, +172) |
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) |
|---|---|
| nssv16743720 | 0.004 |