nsv3199331
- 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:35,593
- 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: 201 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 201 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3199331 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 75,550,509 (-11, +11) | 75,586,101 (-13, +9) | ||
| nsv3199331 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 75,777,635 (-11, +11) | 75,813,227 (-13, +9) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14290767 | duplication | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14290767 | Submitted genomic | NC_000002.12:g.(75 550498_75550520)_( 75586088_75586110) dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 75,550,509 (-11, +11) | 75,586,101 (-13, +9) | ||
| nssv14290767 | Remapped | Perfect | NC_000002.11:g.(75 777624_75777646)_( 75813214_75813236) dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 75,777,635 (-11, +11) | 75,813,227 (-13, +9) |