nsv482102
- 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:15,353
- Description:NCF1
- 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: 304 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 58 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482102 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 74,773,962 | 74,789,314 |
| nsv482102 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 74,188,309 | 74,203,658 |
| nsv482102 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,303,198 | 2,318,550 |
| nsv482102 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 73,632,960 | 73,648,309 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558463 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv558463 | Remapped | Good | NC_000007.14:g.(74 773962_?)_(?_74789 314)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 74,773,962 | 74,789,314 |
| nssv558463 | Remapped | Good | NW_003871064.1:g.( 2303198_?)_(?_2318 550)dup | GRCh37.p13 | Second Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,303,198 | 2,318,550 |
| nssv558463 | Remapped | Perfect | NC_000007.13:g.(74 188309_?)_(?_74203 658)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 74,188,309 | 74,203,658 |
| nssv558463 | Submitted genomic | NC_000007.11:g.(73 632960_?)_(?_73648 309)dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 73,632,960 | 73,648,309 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558463 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |