A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542902



Internal ID15510138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5878655..5933579hg38UCSC Ensembl
Innerchr11:5899885..5954809hg19UCSC Ensembl
Innerchr11:5856461..5911385hg18UCSC Ensembl
Innerchr11:5856461..5911385hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3854925
hg1954925
hg1854925
hg1754925
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467690
Supporting Variants
SamplesHGDP01194
Known GenesOR52E4
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv542902
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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