nsv5315728
- 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:173,143
- 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: 740 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 740 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5315728 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000010.11 | Chr10 | 101,379,460 (-25, +22) | 101,552,602 (-30, +29) | ||
| nsv5315728 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 103,139,217 (-25, +22) | 103,312,359 (-30, +29) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16750797 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16750797 | Submitted genomic | NC_000010.11:g.(10 1379435_101379482) _(101552572_101552 631)dup | GRCh38.p13 | NC_000010.11 | Chr10 | 101,379,460 (-25, +22) | 101,552,602 (-30, +29) | ||
| nssv16750797 | Remapped | Perfect | NC_000010.10:g.(10 3139192_103139239) _(103312329_103312 388)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 103,139,217 (-25, +22) | 103,312,359 (-30, +29) |
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) |
|---|---|
| nssv16750797 | <0.001 |