nsv482098
- 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:6,128
- Description:MARCKS
- 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: 154 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 154 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482098 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 113,857,348 | 113,863,475 |
| nsv482098 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 114,178,527 | 114,184,652 |
| nsv482098 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 114,285,220 | 114,291,345 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558459 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv558459 | Remapped | Good | NC_000006.12:g.(11 3857348_?)_(?_1138 63475)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 113,857,348 | 113,863,475 |
| nssv558459 | Remapped | Perfect | NC_000006.11:g.(11 4178527_?)_(?_1141 84652)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 114,178,527 | 114,184,652 |
| nssv558459 | Submitted genomic | NC_000006.9:g.(114 285220_?)_(?_11429 1345)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 114,285,220 | 114,291,345 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558459 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |