A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543024



Internal ID15155713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55315958..55641224hg38UCSC Ensembl
Innerchr11:55083434..55408700hg19UCSC Ensembl
Innerchr11:54840010..55165276hg18UCSC Ensembl
Innerchr11:54840010..55165276hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38325267
hg19325267
hg18325267
hg17325267
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467886
Supporting Variants
Samples1780854337_A
Known GenesOR4A15, OR4A16, OR4C11, OR4C15, OR4C16, OR4P4
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)nssv543024
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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