nsv5316591
- 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:2,394
- 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: 82 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5316591 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000012.12 | Chr12 | 48,780,074 (-3, +2) | 48,782,467 (-10, +9) | ||
| nsv5316591 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 49,173,857 (-3, +2) | 49,176,250 (-10, +9) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16748738 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16748738 | Submitted genomic | NC_000012.12:g.(48 780071_48780076)_( 48782457_48782476) del | GRCh38.p13 | NC_000012.12 | Chr12 | 48,780,074 (-3, +2) | 48,782,467 (-10, +9) | ||
| nssv16748738 | Remapped | Perfect | NC_000012.11:g.(49 173854_49173859)_( 49176240_49176259) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 49,173,857 (-3, +2) | 49,176,250 (-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) |
|---|---|
| nssv16748738 | <0.001 |