nsv5427829
- 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:15,748
- 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: 292 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 276 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5427829 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 3,900,758 (-20, +21) | 3,916,505 (-22, +20) | ||
| nsv5427829 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 3,823,584 (-20, +21) | 3,833,069 (-22, +20) |
| nsv5427829 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_004070864.2 | Chr1|NW_00 4070864.2 | 1 (-0, +21) | 9,486 (-22, +20) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16903277 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16903277 | Submitted genomic | NC_000001.11:g.(39 00738_3900779)_(39 16483_3916525)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 3,900,758 (-20, +21) | 3,916,505 (-22, +20) | ||
| nssv16903277 | Remapped | Pass | NW_004070864.2:g.( 1_22)_(9464_9506)d up | GRCh37.p13 | First Pass | NW_004070864.2 | Chr1|NW_00 4070864.2 | 1 (-0, +21) | 9,486 (-22, +20) |
| nssv16903277 | Remapped | Pass | NC_000001.10:g.(38 23564_3823605)_(38 33047_3833089)dup | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 3,823,584 (-20, +21) | 3,833,069 (-22, +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) |
|---|---|---|---|
| nssv16903277 | 0.003 | 18 | 6404 |