nsv471745
- Organism: Homo sapiens
- Study:nstd34 (Hinds et al. 2005)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:2,106
- Publication(s):Hinds et al. 2005
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: 193 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 193 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 5 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 Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv471745 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 5,500,421 | 5,501,121 | 5,501,826 | 5,502,526 |
| nsv471745 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 5,521,651 | 5,522,351 | 5,523,056 | 5,523,756 |
| nsv471745 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 5,478,227 | 5,478,927 | 5,479,632 | 5,480,332 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv646026 | copy number loss | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv646026 | Remapped | Perfect | NC_000011.10:g.(55 00421_5501121)_(55 01826_5502526)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,500,421 | 5,501,121 | 5,501,826 | 5,502,526 |
| nssv646026 | Remapped | Perfect | NC_000011.9:g.(552 1651_5522351)_(552 3056_5523756)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,521,651 | 5,522,351 | 5,523,056 | 5,523,756 |
| nssv646026 | Submitted genomic | NC_000011.8:g.(547 8227_5478927)_(547 9632_5480332)del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 5,478,227 | 5,478,927 | 5,479,632 | 5,480,332 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv646026 | 2 | PCR | Manual observation | Pass |