nsv3168745
- 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:101,745
- 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: 286 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 286 SVs from 46 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3168745 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 108,414,205 (-291, +291) | 108,515,949 (-291, +291) |
nsv3168745 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 108,735,409 (-291, +291) | 108,837,152 (-291, +291) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14238925 | deletion | DB46 | Sequencing | Paired-end mapping | 54 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14238925 | Remapped | Good | NC_000006.12:g.(10 8413914_108414496) _(108515658_108516 240)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 108,414,205 (-291, +291) | 108,515,949 (-291, +291) |
nssv14238925 | Submitted genomic | NC_000006.11:g.(10 8735118_108735700) _(108836861_108837 443)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 108,735,409 (-291, +291) | 108,837,152 (-291, +291) |