nsv482136
- 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:3,952
- Description:FCER1G
- 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: 147 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482136 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 161,215,297 | 161,219,248 |
| nsv482136 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 161,185,087 | 161,189,038 |
| nsv482136 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 157,998,160 | 158,002,111 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv558497 | copy number loss | KB1 | Sequencing | Read depth | 187 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv558497 | Remapped | Perfect | NC_000001.11:g.(16 1215297_?)_(?_1612 19248)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 161,215,297 | 161,219,248 |
| nssv558497 | Remapped | Perfect | NC_000001.10:g.(16 1185087_?)_(?_1611 89038)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 161,185,087 | 161,189,038 |
| nssv558497 | Submitted genomic | NC_000001.8:g.(157 998160_?)_(?_15800 2111)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 157,998,160 | 158,002,111 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558497 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |