nsv471755
- 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:1,820
- 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: 109 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 2 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 | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv471755 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 87,722,513 | 87,724,332 |
nsv471755 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 87,433,405 | 87,435,224 |
nsv471755 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 87,111,053 | 87,112,872 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv646036 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv646036 | Remapped | Perfect | NC_000011.10:g.877 22513_87724332del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 87,722,513 | 87,724,332 |
nssv646036 | Remapped | Perfect | NC_000011.9:g.8743 3405_87435224del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 87,433,405 | 87,435,224 |
nssv646036 | Submitted genomic | NC_000011.8:g.8711 1053_87112872del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 87,111,053 | 87,112,872 |
Validation Information
Variant Call ID | Experiment ID | Method | Analysis | Result |
---|---|---|---|---|
nssv646036 | 2 | PCR | Manual observation | Pass |