nsv5533472
- 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:19,654
- 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: 131 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 131 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5533472 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 12,665,528 (-23, +20) | 12,685,181 (-20, +26) | ||
| nsv5533472 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 12,759,385 (-23, +20) | 12,779,038 (-20, +26) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17707904 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17707904 | Submitted genomic | NC_000016.10:g.(12 665505_12665548)_( 12685161_12685207) del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 12,665,528 (-23, +20) | 12,685,181 (-20, +26) | ||
| nssv17707904 | Remapped | Perfect | NC_000016.9:g.(127 59362_12759405)_(1 2779018_12779064)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 12,759,385 (-23, +20) | 12,779,038 (-20, +26) |
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) |
|---|---|---|---|
| nssv17707904 | <0.001 | 1 | 6404 |