nsv5425271
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:28,588
- 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: 363 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 182 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5425271 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 145,522,000 | 145,550,587 | ||
| nsv5425271 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,337,413 | 2,366,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16890067 | deletion | Sequencing | Sequence alignment |
| nssv16890068 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16890067 | Submitted genomic | NC_000001.11:g.145 522000_145550587de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,522,000 | 145,550,587 | ||
| nssv16890068 | Submitted genomic | NC_000001.11:g.145 522000_145550587du p | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,522,000 | 145,550,587 | ||
| nssv16890067 | Remapped | Perfect | NW_003871055.3:g.2 337413_2366000del | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,337,413 | 2,366,000 |
| nssv16890068 | Remapped | Perfect | NW_003871055.3:g.2 337413_2366000dup | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,337,413 | 2,366,000 |
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) |
|---|---|---|---|
| nssv16890067 | 0.002 | 14 | 6404 |
| nssv16890068 | 0.007 | 46 | 6402 |