nsv482046
- 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:6,098
- Description:SEPW1
- 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: 126 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 126 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482046 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 47,778,585 | 47,784,682 |
| nsv482046 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 48,281,842 | 48,287,939 |
| nsv482046 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000019.8 | Chr19 | 52,973,654 | 52,979,751 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558407 | copy number loss | KB1 | Sequencing | Read depth | 1 | 187 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv558407 | Remapped | Perfect | NC_000019.10:g.(47 778585_?)_(?_47784 682)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 47,778,585 | 47,784,682 |
| nssv558407 | Remapped | Perfect | NC_000019.9:g.(482 81842_?)_(?_482879 39)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 48,281,842 | 48,287,939 |
| nssv558407 | Submitted genomic | NC_000019.8:g.(529 73654_?)_(?_529797 51)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 52,973,654 | 52,979,751 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558407 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |