nsv817615
- Organism: Homo sapiens
- Study:nstd58 (Forsberg et al. 2012)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:770,980
- Publication(s):Forsberg et al. 2012
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: 2266 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2266 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 634 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv817615 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 51,339,845 | 51,347,101 | 51,958,317 | 52,110,824 |
| nsv817615 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 52,252,405 | 52,259,661 | 52,870,877 | 53,023,384 |
| nsv817615 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 52,414,958 | 52,422,214 | 53,033,430 | 53,185,937 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1415559 | copy number gain | 102 | SNP array | SNP genotyping analysis | nssv1415558 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1415559 | Remapped | Perfect | NC_000008.11:g.(51 339845_51347101)_( 51958317_52110824) dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 51,339,845 | 51,347,101 | 51,958,317 | 52,110,824 |
| nssv1415559 | Remapped | Perfect | NC_000008.10:g.(52 252405_52259661)_( 52870877_53023384) dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 52,252,405 | 52,259,661 | 52,870,877 | 53,023,384 |
| nssv1415559 | Submitted genomic | NC_000008.9:g.(524 14958_52422214)_(5 3033430_53185937)d up | NCBI36 (hg18) | NC_000008.9 | Chr8 | 52,414,958 | 52,422,214 | 53,033,430 | 53,185,937 |