nsv5427123
- 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:17,374
- 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: 159 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 34 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5427123 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 150,301,144 (-50, +280) | 150,318,517 (-279, +49) | ||
| nsv5427123 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 150,273,570 (-50, +280) | 150,290,964 (-279, +49) |
| nsv5427123 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 7,116,557 (-50, +280) | 7,133,930 (-279, +49) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16891161 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16891161 | Submitted genomic | NC_000001.11:g.(15 0301094_150301424) _(150318238_150318 566)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 150,301,144 (-50, +280) | 150,318,517 (-279, +49) | ||
| nssv16891161 | Remapped | Perfect | NW_003871055.3:g.( 7116507_7116837)_( 7133651_7133979)de l | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 7,116,557 (-50, +280) | 7,133,930 (-279, +49) |
| nssv16891161 | Remapped | Good | NC_000001.10:g.(15 0273520_150273850) _(150290685_150291 013)del | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 150,273,570 (-50, +280) | 150,290,964 (-279, +49) |
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) |
|---|---|---|---|
| nssv16891161 | <0.001 | 1 | 6404 |