nsv3060544
- Organism: Homo sapiens
- Study:nstd140 (Fan et al. 2017)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,298
- Publication(s):Fan et al. 2017
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: 334 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 340 SVs from 71 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3060544 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 212,829,030 | 212,840,327 |
| nsv3060544 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 213,002,372 | 213,013,669 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14027805 | deletion | CHM1 | Sequencing | Local sequence assembly | 7,551 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14027805 | Remapped | Perfect | NC_000001.11:g.212 829030_212840327de l | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,829,030 | 212,840,327 |
| nssv14027805 | Submitted genomic | NC_000001.10:g.213 002372_213013669de l | GRCh37 (hg19) | NC_000001.10 | Chr1 | 213,002,372 | 213,013,669 |