nsv3168758
- Organism: Homo sapiens
- Study:nstd158 (Cleal et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:150,985
- Publication(s):Cleal et al. 2019
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: 589 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 589 SVs from 74 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3168758 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 61,445,560 (-159, +159) | 61,596,544 (-159, +159) |
nsv3168758 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 61,431,234 (-159, +159) | 61,582,218 (-159, +159) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14239505 | duplication | DB45 | Sequencing | Paired-end mapping | 24 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14239505 | Remapped | Perfect | NC_000003.12:g.(61 445401_61445719)_( 61596385_61596703) dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 61,445,560 (-159, +159) | 61,596,544 (-159, +159) |
nssv14239505 | Submitted genomic | NC_000003.11:g.(61 431075_61431393)_( 61582059_61582377) dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 61,431,234 (-159, +159) | 61,582,218 (-159, +159) |