nsv511393
- Organism: Homo sapiens
- Study:nstd50 (Arlt et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,083
- Publication(s):Arlt et al. 2011
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: 398 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 398 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 207 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv511393 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 25,214,226 | 25,216,199 | 25,216,845 | 25,222,308 |
| nsv511393 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 25,071,742 | 25,073,715 | 25,074,361 | 25,079,824 |
| nsv511393 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 25,127,659 | 25,129,632 | 25,130,278 | 25,135,741 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv626000 | copy number gain | 1 | SNP array | SNP genotyping analysis | 2,637 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv626000 | Remapped | Perfect | NC_000008.11:g.(25 214226_25216199)_( 25216845_25222308) dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 25,214,226 | 25,216,199 | 25,216,845 | 25,222,308 |
| nssv626000 | Remapped | Perfect | NC_000008.10:g.(25 071742_25073715)_( 25074361_25079824) dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 25,071,742 | 25,073,715 | 25,074,361 | 25,079,824 |
| nssv626000 | Submitted genomic | NC_000008.9:g.(251 27659_25129632)_(2 5130278_25135741)d up | NCBI36 (hg18) | NC_000008.9 | Chr8 | 25,127,659 | 25,129,632 | 25,130,278 | 25,135,741 |