nsv5550835
- 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:187
- 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: 636 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 587 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 10 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5550835 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 19,260,393 | 19,260,579 | ||
nsv5550835 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000022.10 | Chr22 | 19,247,916 | 19,248,102 |
nsv5550835 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871096.1 | Chr22|NW_0 03871096.1 | 113,610 | 113,796 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17727636 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17727636 | Submitted genomic | NC_000022.11:g.192 60393_19260579del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 19,260,393 | 19,260,579 | ||
nssv17727636 | Remapped | Perfect | NW_003871096.1:g.1 13610_113796del | GRCh37.p13 | First Pass | NW_003871096.1 | Chr22|NW_0 03871096.1 | 113,610 | 113,796 |
nssv17727636 | Remapped | Perfect | NC_000022.10:g.192 47916_19248102del | GRCh37.p13 | Second Pass | NC_000022.10 | Chr22 | 19,247,916 | 19,248,102 |
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) |
---|---|---|---|
nssv17727636 | 0.018 | 113 | 6404 |