nsv5320977
- 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:12,645
- 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: 190 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5320977 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000019.10 | Chr19 | 6,375,477 (-24, +21) | 6,388,121 (-23, +23) | ||
| nsv5320977 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 6,375,488 (-24, +21) | 6,388,132 (-23, +23) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16743396 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16743396 | Submitted genomic | NC_000019.10:g.(63 75453_6375498)_(63 88098_6388144)dup | GRCh38.p13 | NC_000019.10 | Chr19 | 6,375,477 (-24, +21) | 6,388,121 (-23, +23) | ||
| nssv16743396 | Remapped | Perfect | NC_000019.9:g.(637 5464_6375509)_(638 8109_6388155)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 6,375,488 (-24, +21) | 6,388,132 (-23, +23) |
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) |
|---|---|
| nssv16743396 | <0.001 |