nsv5314140
- 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:1,308,002
- 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: 7394 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 7278 SVs from 126 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5314140 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000011.10 | Chr11 | 54,936,176 (-1, +1) | 56,244,177 (-2, +1) | ||
| nsv5314140 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 54,711,406 (-1, +1) | 56,011,653 (-2, +1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16746932 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16746932 | Submitted genomic | NC_000011.10:g.(54 936175_54936177)_( 56244175_56244178) dup | GRCh38.p13 | NC_000011.10 | Chr11 | 54,936,176 (-1, +1) | 56,244,177 (-2, +1) | ||
| nssv16746932 | Remapped | Good | NC_000011.9:g.(547 11405_54711407)_(5 6011651_56011654)d up | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,711,406 (-1, +1) | 56,011,653 (-2, +1) |
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) |
|---|---|
| nssv16746932 | 0.002 |