nsv5438285
- 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:3,868
- 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: 576 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 158 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5438285 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 89,671,963 (-20, +20) | 89,675,830 (-20, +20) | ||
| nsv5438285 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000004.11 | Chr4 | 103,860,695 (-20, +20) | 103,864,591 (-20, +20) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16916741 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16916741 | Submitted genomic | NC_000002.12:g.(89 671943_89671983)_( 89675810_89675850) del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 89,671,963 (-20, +20) | 89,675,830 (-20, +20) | ||
| nssv16916741 | Remapped | Good | NC_000004.11:g.(10 3860675_103860715) _(103864571_103864 611)del | GRCh37.p13 | Second Pass | NC_000004.11 | Chr4 | 103,860,695 (-20, +20) | 103,864,591 (-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) |
|---|---|---|---|
| nssv16916741 | 0.125 | 802 | 6404 |