A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543037



Internal ID15164080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55592737..55702527hg38UCSC Ensembl
Innerchr11:55360213..55470003hg19UCSC Ensembl
Innerchr11:55116789..55226579hg18UCSC Ensembl
Innerchr11:55116789..55226579hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38109791
hg19109791
hg18109791
hg17109791
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467900
Supporting Variants
SamplesHGDP01296
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)nssv543037
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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