nsv5444563
- 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:2,064
- 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: 193 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 195 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 46 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5444563 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 206,058,248 | 206,060,311 | ||
| nsv5444563 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 206,281,060 | 206,283,123 |
| nsv5444563 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 49,102 | 51,165 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16895277 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16895277 | Submitted genomic | NC_000001.11:g.206 058248_206060311de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 206,058,248 | 206,060,311 | ||
| nssv16895277 | Remapped | Perfect | NW_003871057.1:g.4 9102_51165del | GRCh37.p13 | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 49,102 | 51,165 |
| nssv16895277 | Remapped | Perfect | NC_000001.10:g.206 281060_206283123de l | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 206,281,060 | 206,283,123 |
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) |
|---|---|---|---|
| nssv16895277 | 0.002 | 11 | 6404 |