nsv5517769
- 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:1,502
- 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 20 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5517769 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 45,844,482 (-112, +295) | 45,845,983 (-301, +69) | ||
| nsv5517769 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 46,347,740 (-112, +295) | 46,349,241 (-301, +69) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17723612 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17723612 | Submitted genomic | NC_000019.10:g.(45 844370_45844777)_( 45845682_45846052) del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 45,844,482 (-112, +295) | 45,845,983 (-301, +69) | ||
| nssv17723612 | Remapped | Perfect | NC_000019.9:g.(463 47628_46348035)_(4 6348940_46349310)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 46,347,740 (-112, +295) | 46,349,241 (-301, +69) |
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) |
|---|---|---|---|
| nssv17723612 | <0.001 | 2 | 6404 |