nsv3167986
- 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:310,379
- 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: 1115 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1115 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3167986 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 7,142,968 (-4, +4) | 7,453,346 (-4, +4) |
| nsv3167986 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 7,184,655 (-4, +4) | 7,495,033 (-4, +4) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14238979 | deletion | DB93 | Sequencing | Paired-end mapping | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14238979 | Remapped | Perfect | NC_000003.12:g.(71 42964_7142972)_(74 53342_7453350)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 7,142,968 (-4, +4) | 7,453,346 (-4, +4) |
| nssv14238979 | Submitted genomic | NC_000003.11:g.(71 84651_7184659)_(74 95029_7495037)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 7,184,655 (-4, +4) | 7,495,033 (-4, +4) |