nsv3168071
- 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:446,420
- 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: 1874 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1874 SVs from 91 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168071 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 161,521,902 (-263, +263) | 161,968,321 (-263, +263) |
| nsv3168071 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 161,942,934 (-263, +263) | 162,389,353 (-263, +263) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14238928 | deletion | DB57 | Sequencing | Paired-end mapping | 76 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14238928 | Remapped | Perfect | NC_000006.12:g.(16 1521639_161522165) _(161968058_161968 584)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 161,521,902 (-263, +263) | 161,968,321 (-263, +263) |
| nssv14238928 | Submitted genomic | NC_000006.11:g.(16 1942671_161943197) _(162389090_162389 616)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 161,942,934 (-263, +263) | 162,389,353 (-263, +263) |