A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537279



Internal ID15510771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:98134315..98171523hg38UCSC Ensembl
Innerchr3:97853159..97890367hg19UCSC Ensembl
Innerchr3:99335849..99373057hg18UCSC Ensembl
Innerchr3:99335849..99373057hg17UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3837209
hg1937209
hg1837209
hg1737209
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460768
Supporting Variants
SamplesHGDP01297
Known GenesOR5H14, OR5H15
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)nssv537279
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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