nsv5301431
- 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:170,956
- 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: 561 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 551 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5301431 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000011.10 | Chr11 | 96,564,359 (-10, +8) | 96,735,314 (-10, +9) | ||
| nsv5301431 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 96,437,586 (-10, +8) | 96,606,314 (-10, +9) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16737010 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16737010 | Submitted genomic | NC_000011.10:g.(96 564349_96564367)_( 96735304_96735323) dup | GRCh38.p13 | NC_000011.10 | Chr11 | 96,564,359 (-10, +8) | 96,735,314 (-10, +9) | ||
| nssv16737010 | Remapped | Good | NC_000011.9:g.(964 37576_96437594)_(9 6606304_96606323)d up | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 96,437,586 (-10, +8) | 96,606,314 (-10, +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) |
|---|---|
| nssv16737010 | <0.001 |