nsv5496239
- 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:146
- 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: 122 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 113 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5496239 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 121,332,913 | 121,333,058 | ||
| nsv5496239 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000012.11 | Chr12 | 121,770,716 | 121,770,861 |
| nsv5496239 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004504303.2 | Chr12|NW_0 04504303.2 | 8,916 | 9,061 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17684975 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17684975 | Submitted genomic | NC_000012.12:g.121 332913_121333058de l | GRCh38 (hg38) | NC_000012.12 | Chr12 | 121,332,913 | 121,333,058 | ||
| nssv17684975 | Remapped | Perfect | NW_004504303.2:g.8 916_9061del | GRCh37.p13 | First Pass | NW_004504303.2 | Chr12|NW_0 04504303.2 | 8,916 | 9,061 |
| nssv17684975 | Remapped | Perfect | NC_000012.11:g.121 770716_121770861de l | GRCh37.p13 | Second Pass | NC_000012.11 | Chr12 | 121,770,716 | 121,770,861 |
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) |
|---|---|---|---|
| nssv17684975 | <0.001 | 1 | 6404 |