nsv5490696
- 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:150,266
- 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: 2070 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1100 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5490696 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 47,474,000 | 47,624,265 | ||
| nsv5490696 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871068.1 | Chr10|NW_0 03871068.1 | 1,745,115 | 1,895,380 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17034604 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17034604 | Submitted genomic | NC_000010.11:g.474 74000_47624265del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 47,474,000 | 47,624,265 | ||
| nssv17034604 | Remapped | Perfect | NW_003871068.1:g.1 745115_1895380del | GRCh37.p13 | First Pass | NW_003871068.1 | Chr10|NW_0 03871068.1 | 1,745,115 | 1,895,380 |
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) |
|---|---|---|---|
| nssv17034604 | 0.003 | 17 | 6054 |