nsv3194811
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:35,601
- Publication(s):Chaisson 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: 351 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 67 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3194811 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 207,529,055 (-1651, +1651) | 207,564,655 (-1651, +1651) | ||
| nsv3194811 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 207,702,400 (-1651, +1651) | 207,738,000 (-1651, +1651) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14304606 | duplication | SAMN00006580 | Sequencing | Sequence alignment | Heterozygous | 14,212 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14304606 | Submitted genomic | NC_000001.11:g.(20 7527404_207530706) _(207563004_207566 306)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 207,529,055 (-1651, +1651) | 207,564,655 (-1651, +1651) | ||
| nssv14304606 | Remapped | Perfect | NC_000001.10:g.(20 7700749_207704051) _(207736349_207739 651)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 207,702,400 (-1651, +1651) | 207,738,000 (-1651, +1651) |