nsv5502679
- 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:645
- 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: 125 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5502679 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 50,942,183 | 50,942,827 | ||
| nsv5502679 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 51,408,901 | 51,409,545 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17695230 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17695230 | Submitted genomic | NC_000014.9:g.5094 2183_50942827del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 50,942,183 | 50,942,827 | ||
| nssv17695230 | Remapped | Perfect | NC_000014.8:g.5140 8901_51409545del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 51,408,901 | 51,409,545 |
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) |
|---|---|---|---|
| nssv17695230 | 0.283 | 1800 | 6364 |