nsv471739
- 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:2,719
- 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: 288 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 288 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 1 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 | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv471739 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 16,888,891 | 16,889,391 | 16,890,109 | 16,891,609 |
| nsv471739 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 16,889,000 | 16,889,500 | 16,890,218 | 16,891,718 |
| nsv471739 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 16,942,000 | 16,942,500 | 16,943,218 | 16,944,718 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv646020 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv646020 | Remapped | Perfect | NC_000005.10:g.(16 888891_16889391)_( 16890109_16891609) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 16,888,891 | 16,889,391 | 16,890,109 | 16,891,609 |
| nssv646020 | Remapped | Perfect | NC_000005.9:g.(168 89000_16889500)_(1 6890218_16891718)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 16,889,000 | 16,889,500 | 16,890,218 | 16,891,718 |
| nssv646020 | Submitted genomic | NC_000005.8:g.(169 42000_16942500)_(1 6943218_16944718)d el | NCBI35 (hg17) | NC_000005.8 | Chr5 | 16,942,000 | 16,942,500 | 16,943,218 | 16,944,718 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv646020 | 2 | PCR | Manual observation | Pass |