A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543033



Internal ID15162804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55592737..55679951hg38UCSC Ensembl
Innerchr11:55360213..55447427hg19UCSC Ensembl
Innerchr11:55116789..55204003hg18UCSC Ensembl
Innerchr11:55116789..55204003hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3887215
hg1987215
hg1887215
hg1787215
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467896
Supporting Variants
SamplesHGDP01021
Known GenesOR4C11, OR4C6, OR4P4, OR4S2
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)nssv543033
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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