nsv5474940
- 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:414,450
- 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: 1932 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1125 SVs from 60 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5474940 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 142,381,255 (-20, +20) | 142,795,704 (-20, +20) | ||
| nsv5474940 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003571040.1 | Chr7|NW_00 3571040.1 | 705,943 (-20, +20) | 998,748 (-20, +20) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17006346 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17006346 | Submitted genomic | NC_000007.14:g.(14 2381235_142381275) _(142795684_142795 724)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 142,381,255 (-20, +20) | 142,795,704 (-20, +20) | ||
| nssv17006346 | Remapped | Pass | NW_003571040.1:g.( 705923_705963)_(99 8728_998768)del | GRCh37.p13 | Second Pass | NW_003571040.1 | Chr7|NW_00 3571040.1 | 705,943 (-20, +20) | 998,748 (-20, +20) |
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) |
|---|---|---|---|
| nssv17006346 | <0.001 | 1 | 6404 |