nsv436371
- Organism: Homo sapiens
- Study:nstd16 (Korbel et al. 2007)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:17,391
- Publication(s):Korbel et al. 2007
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: 56 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv436371 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NT_187513.1 | Unplaced|N T_187513.1 | 9,623 | 27,013 |
| nsv436371 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 142,790,645 | 142,808,035 |
| nsv436371 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 141,732,168 | 141,749,558 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv466506 | deletion | SAMN00001583 | Sequencing | Paired-end mapping | 822 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv466506 | Remapped | Perfect | NT_187513.1:g.(962 3_?)_(?_27013)del | GRCh38.p12 | First Pass | NT_187513.1 | Unplaced|N T_187513.1 | 9,623 | 27,013 |
| nssv466506 | Remapped | Perfect | NC_000001.10:g.(14 2790645_?)_(?_1428 08035)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 142,790,645 | 142,808,035 |
| nssv466506 | Submitted genomic | NC_000001.9:g.(141 732168_?)_(?_14174 9558)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 141,732,168 | 141,749,558 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv466506 | 4 | SAMN00001583 | PCR | Manual observation | Pass |