nsv471736
- 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:1,455
- 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: 402 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 402 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv471736 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 15,719,347 | 15,720,801 |
| nsv471736 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 15,719,456 | 15,720,910 |
| nsv471736 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 15,772,456 | 15,773,910 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv646017 | copy number loss | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv646017 | Remapped | Perfect | NC_000005.10:g.157 19347_15720801del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,719,347 | 15,720,801 |
| nssv646017 | Remapped | Perfect | NC_000005.9:g.1571 9456_15720910del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,719,456 | 15,720,910 |
| nssv646017 | Submitted genomic | NC_000005.8:g.1577 2456_15773910del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 15,772,456 | 15,773,910 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv646017 | 2 | PCR | Manual observation | Pass |