nsv869678
- Organism: Homo sapiens
- Study:nstd53 (Tuttelmann et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:158,146
- Publication(s):Tüttelmann 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: 359 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 359 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 11 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv869678 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 50,598,355 | 50,609,083 | 50,751,342 | 50,756,500 |
| nsv869678 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 50,566,068 | 50,576,796 | 50,719,055 | 50,724,213 |
| nsv869678 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 50,674,027 | 50,684,755 | 50,827,014 | 50,832,172 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1496424 | copy number gain | CONTROL_25 | Oligo aCGH | Probe signal intensity | 14 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1496424 | Remapped | Perfect | NC_000006.12:g.(50 598355_50609083)_( 50751342_50756500) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 50,598,355 | 50,609,083 | 50,751,342 | 50,756,500 |
| nssv1496424 | Remapped | Perfect | NC_000006.11:g.(50 566068_50576796)_( 50719055_50724213) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 50,566,068 | 50,576,796 | 50,719,055 | 50,724,213 |
| nssv1496424 | Submitted genomic | NC_000006.10:g.(50 674027_50684755)_( 50827014_50832172) dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 50,674,027 | 50,684,755 | 50,827,014 | 50,832,172 |