nsv482042
- Organism: Homo sapiens
- Study:nstd39 (Schuster et al. 2010)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:18,823
- Description:PSG11
- Publication(s):Schuster et al. 2010
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: 1702 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1702 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 161 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482042 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 43,007,657 | 43,026,479 |
| nsv482042 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 43,511,809 | 43,530,631 |
| nsv482042 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000019.8 | Chr19 | 48,203,649 | 48,222,471 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558403 | copy number gain | KB1 | Sequencing | Read depth | 10 | 187 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv558403 | Remapped | Perfect | NC_000019.10:g.(43 007657_?)_(?_43026 479)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 43,007,657 | 43,026,479 |
| nssv558403 | Remapped | Perfect | NC_000019.9:g.(435 11809_?)_(?_435306 31)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 43,511,809 | 43,530,631 |
| nssv558403 | Submitted genomic | NC_000019.8:g.(482 03649_?)_(?_482224 71)dup | NCBI35 (hg17) | NC_000019.8 | Chr19 | 48,203,649 | 48,222,471 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558403 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |