nsv482218
- 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:86,571
- Description:FCGBP
- 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: 463 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 280 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 513 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482218 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 39,863,323 | 39,934,626 |
| nsv482218 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 123,199 | 209,769 |
| nsv482218 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 40,353,963 | 40,440,533 |
| nsv482218 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000019.8 | Chr19 | 45,045,803 | 45,132,373 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558579 | copy number gain | KB1 | Sequencing | Read depth | 6 | 187 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv558579 | Remapped | Perfect | NW_009646206.1:g.( 123199_?)_(?_20976 9)dup | GRCh38.p12 | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 123,199 | 209,769 |
| nssv558579 | Remapped | Pass | NC_000019.10:g.(39 863323_?)_(?_39934 626)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,863,323 | 39,934,626 |
| nssv558579 | Remapped | Perfect | NC_000019.9:g.(403 53963_?)_(?_404405 33)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 40,353,963 | 40,440,533 |
| nssv558579 | Submitted genomic | NC_000019.8:g.(450 45803_?)_(?_451323 73)dup | NCBI35 (hg17) | NC_000019.8 | Chr19 | 45,045,803 | 45,132,373 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558579 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |