nsv482220
- 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:21,906
- Description:CEACAM5
- 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: 156 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482220 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 41,708,611 | 41,730,516 |
| nsv482220 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 42,212,530 | 42,234,436 |
| nsv482220 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 277,650 | 299,555 |
| nsv482220 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000019.8 | Chr19 | 46,904,370 | 46,926,276 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558581 | copy number gain | KB1 | Sequencing | Read depth | 3 | 187 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv558581 | Remapped | Good | NC_000019.10:g.(41 708611_?)_(?_41730 516)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 41,708,611 | 41,730,516 |
| nssv558581 | Remapped | Good | NW_004775434.1:g.( 277650_?)_(?_29955 5)dup | GRCh37.p13 | Second Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 277,650 | 299,555 |
| nssv558581 | Remapped | Perfect | NC_000019.9:g.(422 12530_?)_(?_422344 36)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 42,212,530 | 42,234,436 |
| nssv558581 | Submitted genomic | NC_000019.8:g.(469 04370_?)_(?_469262 76)dup | NCBI35 (hg17) | NC_000019.8 | Chr19 | 46,904,370 | 46,926,276 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558581 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |