nsv5309302
- 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:2,972
- 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: 180 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 180 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5309302 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000007.14 | Chr7 | 123,183,919 (-7, +6) | 123,186,890 (-5, +3) | ||
| nsv5309302 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 122,823,973 (-7, +6) | 122,826,944 (-5, +3) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16765012 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16765012 | Submitted genomic | NC_000007.14:g.(12 3183912_123183925) _(123186885_123186 893)del | GRCh38.p13 | NC_000007.14 | Chr7 | 123,183,919 (-7, +6) | 123,186,890 (-5, +3) | ||
| nssv16765012 | Remapped | Perfect | NC_000007.13:g.(12 2823966_122823979) _(122826939_122826 947)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 122,823,973 (-7, +6) | 122,826,944 (-5, +3) |
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) |
|---|---|
| nssv16765012 | <0.001 |