nsv5419381
- 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:1,250,706
- 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: 1392 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 1396 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5419381 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000024.10 | ChrY | 11,944,555 (-23, +21) | 13,195,260 (-30, +29) | ||
| nsv5419381 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000024.9 | ChrY | 14,065,261 (-23, +21) | 15,307,158 (-30, +29) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17738403 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17738403 | Submitted genomic | NC_000024.10:g.(11 944532_11944576)_( 13195230_13195289) dup | GRCh38 (hg38) | NC_000024.10 | ChrY | 11,944,555 (-23, +21) | 13,195,260 (-30, +29) | ||
| nssv17738403 | Remapped | Good | NC_000024.9:g.(140 65238_14065282)_(1 5307128_15307187)d up | GRCh37.p13 | First Pass | NC_000024.9 | ChrY | 14,065,261 (-23, +21) | 15,307,158 (-30, +29) |
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) |
|---|---|---|---|
| nssv17738403 | <0.001 | 2 | 3208 |