nsv512198
- Organism: Homo sapiens
- Study:nstd50 (Arlt et al. 2011)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,006
- Publication(s):Arlt et al. 2011
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: 233 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 43 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 233 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv512198 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 676,286 | - | 678,291 |
| nsv512198 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187586.1 | Chr11|NT_1 87586.1 | 208,191 | 209,248 | - |
| nsv512198 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 676,286 | - | 678,291 |
| nsv512198 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 666,286 | - | 668,291 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv624765 | copy number loss | 1 | Sequencing | Paired-end mapping | 2,637 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv624765 | Remapped | Pass | NT_187586.1:g.(208 191_?)_(209248_?)d el | GRCh38.p12 | Second Pass | NT_187586.1 | Chr11|NT_1 87586.1 | 208,191 | 209,248 | - |
| nssv624765 | Remapped | Perfect | NC_000011.10:g.(67 6286_?)_(?_678291) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 676,286 | - | 678,291 |
| nssv624765 | Remapped | Perfect | NC_000011.9:g.(676 286_?)_(?_678291)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 676,286 | - | 678,291 |
| nssv624765 | Submitted genomic | NC_000011.8:g.(666 286_?)_(?_668291)d el2006 | NCBI36 (hg18) | NC_000011.8 | Chr11 | 666,286 | - | 668,291 |