nsv471754
- 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:2,464
- 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: 307 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 307 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 2 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv471754 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 86,593,115 | 86,595,578 |
nsv471754 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 86,304,157 | 86,306,620 |
nsv471754 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 85,981,805 | 85,984,268 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv646035 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv646035 | Remapped | Perfect | NC_000011.10:g.865 93115_86595578del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 86,593,115 | 86,595,578 |
nssv646035 | Remapped | Perfect | NC_000011.9:g.8630 4157_86306620del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 86,304,157 | 86,306,620 |
nssv646035 | Submitted genomic | NC_000011.8:g.8598 1805_85984268del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 85,981,805 | 85,984,268 |
Validation Information
Variant Call ID | Experiment ID | Method | Analysis | Result |
---|---|---|---|---|
nssv646035 | 2 | PCR | Manual observation | Pass |