nsv471813
- 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:1,766
- 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: 165 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 165 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv471813 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 61,417,964 | 61,418,164 | 61,418,929 | 61,419,729 |
| nsv471813 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 62,283,682 | 62,283,882 | 62,284,647 | 62,285,447 |
| nsv471813 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 62,112,448 | 62,112,648 | 62,113,413 | 62,114,213 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv646094 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv646094 | Remapped | Perfect | NC_000004.12:g.(61 417964_61418164)_( 61418929_61419729) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 61,417,964 | 61,418,164 | 61,418,929 | 61,419,729 |
| nssv646094 | Remapped | Perfect | NC_000004.11:g.(62 283682_62283882)_( 62284647_62285447) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 62,283,682 | 62,283,882 | 62,284,647 | 62,285,447 |
| nssv646094 | Submitted genomic | NC_000004.9:g.(621 12448_62112648)_(6 2113413_62114213)d el | NCBI35 (hg17) | NC_000004.9 | Chr4 | 62,112,448 | 62,112,648 | 62,113,413 | 62,114,213 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv646094 | 2 | PCR | Manual observation | Pass |