nsv5417766
- 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:765
- 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: 287 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 288 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5417766 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000024.10 | ChrY | 5,107,963 (-302, +102) | 5,108,727 (-70, +490) | ||
| nsv5417766 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000024.9 | ChrY | 4,976,004 (-302, +102) | 4,976,768 (-70, +490) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17738288 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17738288 | Submitted genomic | NC_000024.10:g.(51 07661_5108065)_(51 08657_5109217)dup | GRCh38 (hg38) | NC_000024.10 | ChrY | 5,107,963 (-302, +102) | 5,108,727 (-70, +490) | ||
| nssv17738288 | Remapped | Perfect | NC_000024.9:g.(497 5702_4976106)_(497 6698_4977258)dup | GRCh37.p13 | First Pass | NC_000024.9 | ChrY | 4,976,004 (-302, +102) | 4,976,768 (-70, +490) |
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) |
|---|---|---|---|
| nssv17738288 | 0.002 | 10 | 6404 |