nsv953362
- Organism: Homo sapiens
- Study:nstd73 (Dogan et al. 2014)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:80,300
- Publication(s):Dogan et al. 2014
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: 459 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 459 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv953362 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 37,367,599 | 37,447,898 |
| nsv953362 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 38,739,901 | 38,820,200 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3000674 | duplication | SAMN01096093 | Sequencing | Read depth | 9,109 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3000674 | Remapped | Perfect | NC_000021.9:g.(373 67599_?)_(?_374478 98)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 37,367,599 | 37,447,898 |
| nssv3000674 | Submitted genomic | NC_000021.8:g.(387 39901_?)_(?_388202 00)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 38,739,901 | 38,820,200 |