nsv3213200
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:35,355
- 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: 417 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 417 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3213200 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 19,619,898 (-11, +11) | 19,655,252 (-11, +11) | ||
| nsv3213200 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 20,992,212 (-11, +11) | 21,027,566 (-11, +11) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14302267 | duplication | HG00514 | Sequencing | Sequence alignment | Heterozygous | 39,861 |
| nssv14302268 | duplication | SAMN00006581 | Sequencing | Sequence alignment | Heterozygous | 41,185 |
| nssv14302269 | duplication | SAMN00001696 | Sequencing | Sequence alignment | Heterozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14302267 | Submitted genomic | NC_000021.9:g.(196 19887_19619909)_(1 9655241_19655263)d up | GRCh38 (hg38) | NC_000021.9 | Chr21 | 19,619,898 (-11, +11) | 19,655,252 (-11, +11) | ||
| nssv14302268 | Submitted genomic | NC_000021.9:g.(196 19887_19619909)_(1 9655241_19655263)d up | GRCh38 (hg38) | NC_000021.9 | Chr21 | 19,619,898 (-11, +11) | 19,655,252 (-11, +11) | ||
| nssv14302269 | Submitted genomic | NC_000021.9:g.(196 19887_19619909)_(1 9655241_19655263)d up | GRCh38 (hg38) | NC_000021.9 | Chr21 | 19,619,898 (-11, +11) | 19,655,252 (-11, +11) | ||
| nssv14302267 | Remapped | Perfect | NC_000021.8:g.(209 92201_20992223)_(2 1027555_21027577)d up | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 20,992,212 (-11, +11) | 21,027,566 (-11, +11) |
| nssv14302268 | Remapped | Perfect | NC_000021.8:g.(209 92201_20992223)_(2 1027555_21027577)d up | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 20,992,212 (-11, +11) | 21,027,566 (-11, +11) |
| nssv14302269 | Remapped | Perfect | NC_000021.8:g.(209 92201_20992223)_(2 1027555_21027577)d up | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 20,992,212 (-11, +11) | 21,027,566 (-11, +11) |