nsv3168524
- 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:75,399
- 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: 1247 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1247 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3168524 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 162,464,992 (-283, +283) | 162,540,390 (-283, +283) |
nsv3168524 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 162,886,024 (-283, +283) | 162,961,422 (-283, +283) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14238895 | deletion | DB55 | Sequencing | Paired-end mapping | 35 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14238895 | Remapped | Perfect | NC_000006.12:g.(16 2464709_162465275) _(162540107_162540 673)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 162,464,992 (-283, +283) | 162,540,390 (-283, +283) |
nssv14238895 | Submitted genomic | NC_000006.11:g.(16 2885741_162886307) _(162961139_162961 705)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 162,886,024 (-283, +283) | 162,961,422 (-283, +283) |