nsv954017
- 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:87,200
- 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: 634 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 620 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv954017 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 30,185,225 | 30,272,424 |
| nsv954017 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 29,419,901 | 29,507,100 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv2999957 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv2999957 | Remapped | Perfect | NC_000020.11:g.(30 185225_?)_(?_30272 424)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 30,185,225 | 30,272,424 |
| nssv2999957 | Submitted genomic | NC_000020.10:g.(29 419901_?)_(?_29507 100)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 29,419,901 | 29,507,100 |