nsv5497957
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,592
- Publication(s):Byrska-Bishop et al. 2022
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: 87 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5497957 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 50,116,320 (-81, +190) | 50,117,911 (-423, +49) | ||
| nsv5497957 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 50,510,103 (-81, +190) | 50,511,694 (-423, +49) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17056449 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17056449 | Submitted genomic | NC_000012.12:g.(50 116239_50116510)_( 50117488_50117960) del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 50,116,320 (-81, +190) | 50,117,911 (-423, +49) | ||
| nssv17056449 | Remapped | Perfect | NC_000012.11:g.(50 510022_50510293)_( 50511271_50511743) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 50,510,103 (-81, +190) | 50,511,694 (-423, +49) |
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) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv17056449 | <0.001 | 1 | 6404 |