nsv5475351
- 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:5,034
- 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: 310 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 285 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 56 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5475351 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 74,660,410 | 74,665,443 | ||
| nsv5475351 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 74,074,740 | 74,079,775 |
| nsv5475351 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,189,646 | 2,194,679 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17000995 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17000995 | Submitted genomic | NC_000007.14:g.746 60410_74665443del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 74,660,410 | 74,665,443 | ||
| nssv17000995 | Remapped | Perfect | NW_003871064.1:g.2 189646_2194679del | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,189,646 | 2,194,679 |
| nssv17000995 | Remapped | Good | NC_000007.13:g.740 74740_74079775del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 74,074,740 | 74,079,775 |
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) |
|---|---|---|---|
| nssv17000995 | <0.001 | 3 | 6404 |