nsv3528842
- 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:49,817
- 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: 294 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 294 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3528842 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 56,136,160 (-0, +1) | 56,185,976 (-0, +5) | ||
| nsv3528842 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 57,048,719 (-0, +1) | 57,098,535 (-0, +5) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14343272 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14343272 | Submitted genomic | NC_000008.11:g.(56 136160_56136161)_( 56185976_56185981) dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 56,136,160 (-0, +1) | 56,185,976 (-0, +5) | ||
| nssv14343272 | Remapped | Perfect | NC_000008.10:g.(57 048719_57048720)_( 57098535_57098540) dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 57,048,719 (-0, +1) | 57,098,535 (-0, +5) |